description: Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.


Griscelli syndrome type 3

category: biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has material basis in mutation in the MLPH or MYO5A genes.


description: Hermansky-Pudlak syndrome without pulmonary fibrosis as a complication includes three relatively mild types (HPS-3, HPS-5 and HPS-6) of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by ocular or oculocutaneous albinism, bleeding diathesis and, in some cases, granulomatous colitis.


name: minimal pigment oculocutaneous albinism type 1

description: Type 1 minimal pigment oculocutaneous albinism (OCA1-MP) is an extremely rare form of OCA1 with minimal pigment present, characterized by blond hair, variable iris transillumination, visual acuity ranging from 20/80-20/200 and white skin, with or without skin nevi.


oculocutaneous albinism type 1

description: Type 1 oculocutaneous albinism (OCA1) describes a group of tyrosine related OCAs that includes OCA1A, OCA1B, type 1 minimal pigment oculocutaneous albinism (OCA1-MP) and type 1 temperature sensitive oculocutaneous albinism (OCA1-TS).


familial generalized lentiginosis

description: Familial generalized lentiginosis is a rare, inherited, skin hyperpigmentation disorder characterized by widespread lentigines without associated noncutaneous abnormalities. Patients present multiple brown to dark brown, non-elevated macula of 0.2 to 1 cm in diameter, spread over the entire body, sometimes including palms or soles, but never oral mucosa.


name: severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome


name: deaf blind hypopigmentation syndrome, Yemenite type

description: Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.


name: hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome

description: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a neurocutaneous syndrome characterized by congenital hypomelanotic and hypermelanotic cutaneous macules. It has been described in individuals spanning three generations of an Indian family. Some of the patients also had retarded growth and intellectual deficit.


Tietz syndrome

description: Tietz syndrome is a genetic hypopigmentation and deafness syndrome characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair.


reticulate acropigmentation of Kitamura

description: A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present.


oculocutaneous albinism type 6

description: A form of oculocutaneous albinism characterized by light hair at birth that darkens with age, white skin, transparent irides, photophobia, nystagmus, foveal hypoplasia and reduced visual acuity.


Dowling-Degos disease 2

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POFUT1 gene.


albinism-hearing loss syndrome

description: A syndromic genetic hearing loss is characterized by congenital nerve deafness and piebaldness with no ocular albinism. It has been described in one large pedigree. Transmission is X-linked with affected males presenting with profound sensorineural deafness and severe pigmentary abnormalities of the skin, and carrier females presenting with variable hearing impairment without any pigmentary changes. The causative gene has been mapped to Xq26.3-q27.1.


Hermansky-Pudlak syndrome 5

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene.


name: nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome

description: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome is a rare genetic ectodermal dysplasia syndrome characterized by short stature, nail dystrophy and/or nail loss, oral mucosa and/or tongue hyperpigmentation, dentition abnormalities (delayed teeth eruption, hypodontia, enamel hypoplasia), keratoderma on the margins of the palms and soles and focal hyperkeratosis on the dorsum of the hands and feet. Additionally, dysphagia with esophageal strictures, sensorineural deafness, bronchial asthma and severe iron-deficiency anemia have been observed.


Hermansky-Pudlak syndrome 7

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene.


Hermansky-Pudlak syndrome 9

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene.


Dowling-Degos disease 4

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the POGLUT1 gene.


oculocutaneous albinism type 7

description: Oculocutaneous albinism type 7 (OCA7), formerly called OCA5, is a form of oculocutaneous albinism (OCA) characterized by skin and hair hypopigmentation, nystagmus and iris transillumination.


oculocutaneous albinism type 5

description: Oculocutaneous albinism type 5 (OCA5) is a type of oculocutaneous albinism found in one Pakistani family to date, characterized by white skin, golden hair, photophobia, nystagmus, foveal hypoplasia and impaired visual acuity, that affects males and females equally, and that has been mapped to a locus on chromosome 4q24 but whose gene has not yet been discovered.


name: dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene.


Griscelli syndrome

description: Griscelli syndrome (GS) is characterized by silvery gray sheen of the hair and hypopigmentation of the skin which can be associated to neurological impairment (type 1), immunodeficiency (type 2) or be isolated (type 3).


Griscelli syndrome type 1

description: A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.


Dowling-Degos disease

description: A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.


description: Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.


name: linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies


Hermansky-Pudlak syndrome 10

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene.


name: osteopathia striata-pigmentary dermopathy-white forelock syndrome

description: Osteopathia striata-pigmentary dermopathy-white forelock syndrome is characterized by the association of osteopathia striata (longitudinal striations through most of the long bones) with a macular, hyperpigmented dermopathy and a white forelock.


oculocutaneous albinism

description: Oculocutaneous albinism (OCA) describes a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes and variable ocular findings including nystagmus, reduced visual acuity and photophobia. Variants include OCA1A (the most severe form), OCA1B, OCA1-minimal pigment (OCA1-MP), OCA1-temperature sensitive (OCA1-TS), OCA2, OCA3, OCA4, OCA5, OCA6 and OCA7.


name: autosomal dominant oculocutaneous albinism

description: Autosomal dominant form of oculocutaneous albinism.


name: piebald trait-neurologic defects syndrome

description: Piebald trait-neurologic defects syndrome is a rare, genetic, pigmentation anomaly of the skin syndrome characterized by ventral as well as dorsal leukoderma of the trunk and a congenital white forelock, in association with cerebellar ataxia, impaired motor coordination, intellectual disability of variable severity and progressive, mild to profound, uni- or bilateral sensorineural hearing loss. There have been no further descriptions in the literature since 1971.


name: oculocerebral hypopigmentation syndrome, Cross type

description: Oculocerebral hypopigmentation syndrome, Cross type is a rare congenital syndrome characterized by cutaneous and ocular hypopigmentation, various ocular anomalies (e.g. corneal and lens opacity, spastic ectropium, and/or nystagmus), growth deficiency, intellectual deficit and other progressive neurologic anomalies such as spastic tetraplegia, hyperreflexia, and/or athetoid movements. The clinical picture varies among patients and may also include other anomalies such as urinary tract abnormalities, Dandy-Walker malformations, and/or bilateral inguinal hernia.


Hermansky-Pudlak syndrome 3

description: Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene.


name: deafness, congenital, with total albinism


name: dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

description: A oculocutaneous albinism that is part of a larger syndrome.


name: hyperpigmentation with or without hypopigmentation, familial progressive


oculocutaneous albinism type 3

description: Type 3 oculocutaneous albinism (OCA3) is a form of oculocutaneous albinism (OCA) characterized by rufous or brown albinism and occurring mainly in the African population.


familial progressive hyperpigmentation

description: Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.


oculocutaneous albinism type 1B

description: Oculocutaneous albinism type 1B (OCA1B) is a type of OCA1 characterized by skin and hair hypopigmentation, nystagmus, reduced iris and retinal pigment and misrouting of the optic nerves.


name: leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome

description: Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome is a rare, syndromic nail anomaly disorder characterized by the association of leukonychia totalis with acanthosis-nigricans-like lesions (occurring in the neck, axillae and abdomen regions) and hair dysplasia, manifesting with dry, brittle hair which presents an irregular pattern of complete or incomplete twists and an irregular surface with londitudinal furrows on electronic microscopy.


oculocutaneous albinism type 1A

description: Oculocutaneous albinism type 1A (OCA1A) is the most severe form of OCA, where no melanin is produced, and is characterized by white hair and skin, blue, fully translucent irises, nystagmus and misrouting of the optic nerves.


name: dyschromatosis universalis hereditaria 3

description: Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene.


name: familial progressive hyper- and hypopigmentation

description: Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.


description: Hyperkeratosis-hyperpigmentation syndrome describes a very rare hyperpigmentation of the skin characterized by tiny hyperpigmented spots mainly on skin exposed to sunlight, together with mild punctate palmoplantar papular hyperkeratosis as a major feature. There have been no further descriptions in the literature since 1993.


dyschromatosis symmetrica hereditaria

description: Acropigmentation of Dohi is a genodermatosis characterized by the presence of hyperpigmented and hypopigmented macules, principally located on the extremities and limbs.


oculocutaneous albinism type 2

description: Oculocutaneous albinism type 2 (OCA2) is a type of OCA and the most common form of OCA seen in the African population, characterized by variable hypopigmentation of the skin and hair, numerous characteristic ocular changes and misrouting of the optic nerves at the chiasm.


Ito hypomelanosis

description: Hypomelanosis of Ito (HI) is a multisystemic neurocutaneous condition with hypopigmented skin lesions along the Blaschko lines.


Dowling-Degos disease 1

description: Any Dowling-Degos disease in which the cause of the disease is a mutation in the KRT5 gene.


name: linear and whorled nevoid hypermelanosis

description: Linear and whorled nevoid hypermelanosis (LWNH) is a rare skin condition characterized by swirling streaks of hyperpigmented (darkened) skin. The pigmentation follows the lines of Blashko and is mainly located on the trunk and limbs. It is present at birth or appears in the first few weeks of life. It typically progresses for one to two years and then stabilizes. Hyperpigmentation is usually the only symptom but there are isolated reports of other symptoms, involving mostly the central nervous system, musculoskeletal system, and heart. While most cases of LWNH are sporadic, apparent genetic transmission rarely has been described. A few people with LWNH have been diagnosed with chromosomal mosaicism.


name: microcephaly 9, primary, autosomal recessive

description: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene.


L-leucine

The L-enantiomer of leucine.


Matted Lymph Nodes

category: biolink:PhenotypicFeature biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing

description: Lymph nodes adherent to each other, usually a result of tumor spread.


Hematopoietic System Finding

description: Symptoms, physical examination results, and/or laboratory test results related to the hematopoietic system.


name: Neoplastic Plasma Cells 30 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Blasts Under 20,000 in Peripheral Blood White Cells

description: A quantitative microscopic finding indicating that less than 20,000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts Under 25 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Extraosseous Plasmacytoma in Remission

description: A finding of extraosseous plasmacytoma that is not growing and responds to treatment.


name: Childhood Acute Lymphoblastic Leukemia in Partial Remission


Platelet Count Less Than 150x10^9/L

description: A semiquantitative hemocytometry finding indicating the presence of less than 150 billion platelets per liter of blood.


name: Refractory High Risk Myelodysplastic Syndrome

description: High risk myelodysplastic syndrome that does not respond to treatment.


name: Myeloblasts 1 Percent or Less of Peripheral Blood White Cells

description: A microscopic finding indicating that 1 percent or less of the white cells in a peripheral blood sample are myeloblasts.


name: Blasts 20-30 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 20 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


B-cell aplasia

description: A condition characterized by extremely low B-cell counts. It occurs when anti-CD19 CAR T-cells attack and kill CD19-expressing B-lymphocytes.


name: Blasts Expressing T-Lymphoid and Myeloid Markers Present

description: An indication that immature hematopoetic cells expressing T-lymphoid and myeloid markers were detected in a sample.


name: Diffuse Large B-Cell Lymphoma in Complete Remission

description: A finding of diffuse large B-cell lymphoma  with no evidence of disease after therapy.


name: Refractory High Risk Acute Myeloid Leukemia

description: The reemergence of high risk acute myeloid leukemia after a period of remission.


name: Lymphoblasts More Than 50 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


name: Bone Marrow Dysplasia Present in Less than 10 Percent of Myeloid Cells

description: A morphologic finding indicating the presence of dysplasia in less than 10 percent of the myeloid cells in a bone marrow sample.


name: Blasts 30 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 30 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Monoclonal B-Lymphocytes Less Than 5 x 10^9/L in Peripheral Blood

description: A finding indicating the presence of less than 5 x 10^9/L monoclonal B-lymphocytes in peripheral blood.


name: Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloid Leukemia in Remission

description: A finding of myeloid leukemia that is not growing and responds to treatment.


name: Blasts More than 10 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Neoplastic Plasma Cells 20 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


name: Myeloblasts 5 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that at least 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


name: Blasts 6-24 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 6 and 24 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Myeloblasts 5-9 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Monoblasts 80 Percent or More of Bone Marrow Monocytic Cells

description: A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature mononcytes.


Focal Bone Marrow Involvement

description: Focal infiltration of the bone marrow by a malignant neoplasm.


Unilineage Dysplasia Present

description: A hematologic test result indicating dysplastic changes in only one of the myeloid cell lineages in the bone marrow.


name: Megakaryoblasts 50 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature megakaryocytes.


name: Adult Acute Myeloid Leukemia in Remission

description: A finding of acute myeloid leukemia in adults that is not growing and responds to treatment.


name: Neoplastic Monocytes and Precursors 20 Percent or More of Bone Marrow Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are neoplastic mononcytes.


name: Adult Acute Lymphoblastic Leukemia in Complete Remission


Lambda light chain myeloma

description: A finding of multiple myeloma in which the lambda light chain of the immunoglobulin is defective.


name: Lymphoblasts 25 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


name: Recurrent Higher Risk Myelodysplastic Syndrome

description: The reemergence of higher-risk myelodysplastic syndrome after a period of remission.


name: Blasts 20 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts 5-9 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 9 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Bone Marrow Dysplasia Present in 10 Percent or More of the Cells of Two or More Myeloid Cell Lines

description: An indication that signs of dysplasia were detected in at least 10 percent of the cells from two myeloid cell lineages in a bone marrow sample


name: Blasts Expressing CD56 and Immature T-Cell Markers Present

description: An indication that immature hematopoetic cells expressing NCAM1 (CD56) and immature T-lymphoid markers were detected in a sample.


Cytotoxic Lymphoma

description: A group of T-cell and NK-cell non-Hodgkin lymphomas that express one or more cytotoxic markers. They are usually extranodal lymphomas with an aggressive clinical course.


Circulating Tumor Cells Positive

description: An indication that tumor cells have been detected in a peripheral blood sample.


Untreated Small Lymphocytic Lymphoma

description: A finding of small lymphocytic lymphoma that has not been treated.


name: Blasts More than 60 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Chronic Hemolysis

description: Persisting and longstanding disruption of erythrocyte membrane integrity and the resulting release of hemoglobin.


CD4 Lymphocytes Decreased

description: A laboratory test result which indicates decreased levels of CD4 lymphocytes in a biospecimen.


name: Absolute Neutrophil Count Greater than or Equal to 500/mm3

description: A quantitative microscopic finding indicating that neutrophils are found at greater than or 500 per cubic millimeter field in a sample.


Neutrophil Engraftment

description: An absolute neutrophil count (ANC) of 500 or more (500 or more neutrophils in a cubic millimeter of blood) for 3 days in a row is a sign of engraftment. Neutrophil engraftment can occur as early as 10 days after transplant. About 20 days is more common for patients who receive marrow or peripheral (circulating) blood cells. For patients who receive cord blood, the average time to neutrophil engraftment is between 21 and 35 days.


name: Eosinophilia Greater than 1500 cells per Microliter

description: A semi-quantitative microscopic finding indicating that more than 1500 eosinophils are present per microliter of sample.


Eosinophilopenia

description: Abnormally low level of eosinophils in the blood.


name: Chronic myelomonocytic leukemia (in remission)

description: A finding of chronic myelomonocytic leukemia that is not growing and responds to treatment.


Splenic Contraction

description: The process by which the spleen becomes smaller in size or scope.


name: Blasts 20 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


M2 Marrow

description: A bone marrow finding in which the blasts constitute between 5% and less than 25% of the nucleated cells. (Children's Oncology Group)


name: Alloimmune platelet transfusion refractoriness

description: An indication that platelet counts were not increased following one or more transfusions.


name: Lymphoblasts 1 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


name: Neoplastic Plasma Cells 10 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Blasts 10-20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts Under 30 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Neoplastic Promonocytes in Bone Marrow Markedly Increased

description: An indication that the number of neoplastic promonocytes in a bone marrow sample have sharply increased when compared to a normal baseline or a previous sample measurement.


name: Juvenile myelomonocytic leukemia in remission

description: Juvenile myelomonocytic leukemia which is not growing and responds to treatment.


name: Blasts Under 15 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Immature Granulocytes in Peripheral Blood Under 10 Percent

description: A semi-quantitative microscopic finding indicating that less than 10 percent of the cells in a peripheral blood sample are immature granulocytes.


Acute monocytic leukemia in remission

description: A finding of acute monocytic leukemia that is not growing and responds to treatment.


name: Monoclonal B-Lymphocytes More Than 5 x 10^9/L in Peripheral Blood

description: A finding indicating the presence of more than 5 x 10^9/L monoclonal B-lymphocytes in peripheral blood.


name: Acute Myeloid Leukemia with Multilineage Dysplasia in Remission

description: A finding of acute myeloid leukemia with multilineage dysplasia that is not growing and responds to treatment.


name: Myeloblasts Under 20 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


name: Blasts More than 15 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Bone Marrow Blasts Decreased by 50 Percent or More Compared to Pretreatment Level

description: A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by 50 percent or more over the value recorded for a pretreatment sample from that subject.


name: Fetal Circulation with Increased Nucleated Erythrocytes

description: Increased nucleated red blood cells within the fetal circulation.


name: Blasts 1 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 1 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts 5 Percent or More of Bone Marrow Nucleated Cells

description: A microscopic finding indicating the presence of blasts constituting at least 5% of the nucleated cells in a bone marrow aspirate.


name: Blasts Expressing B-Lymphoid, T-Lymphoid, and Myeloid Markers Present

description: A finding indicating the presence of blasts with evidence of trilineage (B-cell, T-cell, and myeloid lineage) assignment.


name: Acute Myeloid Leukemia due to Lineage Switch from Mixed Phenotype Acute Leukemia

description: A finding of acute myeloid leukemia resulting from lineage switch from mixed phenotype acute leukemia.


name: Ring Sideroblasts Under 15 Percent of Erythroid Precursors

description: A semi-quantitative microscopic finding indicating less than 15 percent of the cells in a sample of erythroid precursor cells are ring sideroblasts.


name: Acute promyelocytic leukemia, in remission

description: A finding of acute promyelocytic leukemia that is not growing and responds to treatment.


name: Immature Myeloid Cells Increased in Bone Marrow

description: An increased number of myeloid precursors in the bone marrow.


name: Neoplastic Plasma Cells More than 50 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Blasts 10-19 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Extramedullary Involvement

description: A finding indicating the involvement of sites other than the bone marrow by a hematopoietic neoplasm.


name: Childhood Acute Lymphoblastic Leukemia in Remission

description: A finding of acute lymphoblastic leukemia in children that is not growing and responds to treatment.


name: Myeloblasts Under 1 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating less than 10 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


name: Neoplastic Plasma Cells More than 20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Cells of Monocytic Lineage 80 Percent or More of Bone Marrow Leukemic Cells

description: A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample from a subject with leukemia are from the mononcyte lineage.


name: Refractory Acute Myeloid Leukemia due to Lineage Switch from Acute Leukemia of Ambiguous Lineage

description: A finding of acute myeloid leukemia due to lineage switch from acute leukemia of ambiguous lineage, that is resistant to treatment.


name: Neoplastic Plasma Cells 5 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Myeloblasts Under 10 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


name: Blasts More than 10000 of Peripheral Blood White Cells

description: A quantitative microscopic finding indicating that more than 10000 of the total number of nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: T-Cells Absent, T-Cell Receptor Signaling Defective and Natural Killer Cells and B-Cells Normal

description: A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are absent or found at abnormally low amounts and a defect in T-cell receptor signaling pathways has been observed.


name: Neoplastic Plasma Cells Under 5 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Childhood T Acute Lymphoblastic Leukemia in Remission

description: A finding of T acute lymphoblastic leukemia in childhood that is not growing and responds to treatment.


name: Blasts 10-19 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: High Risk Chronic Myelomonocytic Leukemia

description: Chronic myelomonocytic leukemia with cytogenetic abnormalities including trisomy 8, complex karyotypes, monosomy 7, and del17q. Mutations in RUNX1, NRAS, SETBP1, and ASXL1 are independently associated with inferior overall survival time. (Oncology Letters 15:7132-7138, 2018)


Bone Marrow Basophilia

description: A finding indicating abnormally high levels of basophils in a bone marrow sample.


name: Blasts 5 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Activated B-Cell Positive

description: An indication that actively proliferating and differentiating B-lymphocytes have been detected in a sample.


name: Blasts Less than 0.01 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts 50 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that greater than or equal to 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts 9 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 9 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Dual Population of Bone Marrow Blasts Present

description: An indication that immature hematopoetic cells from two lineages were detected in a bone marrow sample.


name: Myeloblasts 90 Percent or More of Bone Marrow Non-Erythroid Cells

description: A semi-quantitative microscopic finding indicating that at least 90 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Refractory Higher Risk Myelodysplastic Syndrome

description: Higher-risk myelodysplastic syndrome that is resistant to treatment.


Plasma Cell Neoplasm Finding

description: A term that refers to clinicopathologic findings related to plasma cell neoplasms.


name: B-cell prolymphocytic leukemia in remission

description: A finding of B-cell prolymphocytic leukemia that is not growing and responds to treatment.


Normoblastic Erythroid Hyperplasia

description: A laboratory test result indicating an abnormally high quantity of immature red blood cells containing hemoglobin and a pyknotic nucleus.


Mild to Moderate Anisopoikilocytosis

description: A test result indicating a mild to moderate degree of anisopoikilocytosis in the peripheral blood.


name: Myeloblasts 10 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Blasts 0.01 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 0.01 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Circulating Blasts 4-9 Percent

description: A laboratory test result indicating that 4-9 percent of the cells in a peripheral blood sample are immature mononuclear cells.


name: Blasts Greater than or Equal to 5000 per mL

description: A semi-quantitative microscopic finding indicating that immature mononuclear cells are found at greater than or equal to 5000 per milliliter in a sample.


M1 Marrow

description: A bone marrow finding in which the blasts constitute less than 5% of the nucleated cells. (Children's Oncology Group)


name: Mast Cells 20 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are mast cells.


name: Blasts More Than 5 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Monoblasts 20 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononcytes.


name: Blasts 30 Percent or Less of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Recurrent Acute Myeloid Leukemia due to Lineage Switch from Mixed Phenotype Acute Leukemia

description: A finding of reemergence of acute myeloid leukemia due to lineage switch from mixed phenotype acute leukemia.


name: Lymphoblasts More than 10 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


name: Blasts Under 20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Refractory Very High Risk Myelodysplastic Syndrome

description: Very high-risk myelodysplastic syndrome that is resistant to treatment.


Myelosuppression

description: A laboratory test result indicating low production of erythrocytes, leukocytes and/or thrombocytes from the bone marrow.


name: Previously Treated Myelodysplastic Syndrome

description: A myelodysplastic syndrome for which a patient has received treatment in the past.


name: Promyelocytes, Myelocytes, and Mature Neutrophils 10 Percent or More of Bone Marrow Cells

description: A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are promyelocytes, myelocytes, and mature neutrophils.


name: Blasts 10 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at most 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Kappa light chain myeloma

description: A finding of multiple myeloma in which the kappa light chain of the immunoglobulin is defective.


name: Myeloblasts Under 2 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating less than 2 percent of the nucleated cells in a peripheral blood sample are immature mononuclear cells of myeloid origin.


name: Bone Marrow Dysplasia Present in 50 Percent or More of the Cells of Two Cell Lines

description: An indication that signs of dysplasia were detected in at least 50 percent of the cells from two hematopoietic cell lineages in a bone marrow sample


name: Lymphomatous Involvement of Extranodal Site

description: A pathologic and/or clinical finding indicating the spread of a lymphomatous process to an anatomic site other than lymph nodes.


name: Myeloblasts Under 10 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Mast cell leukemia, in remission

description: A finding of mast cell leukemia that is not growing and responds to treatment.


name: Refractory Acute Myeloid Leukemia due to Lineage Switch from Mixed Phenotype Acute Leukemia

description: A finding of acute myeloid leukemia due to lineage switch from mixed phenotype acute leukemia, that is resistant to treatment.


name: Blasts Under 5 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


IgG Multiple Myeloma

description: A finding of multiple myeloma in which the heavy chain of the immunoglobulin G is defective. This is the most common type of multiple myeloma (>50%).


name: Blasts Under 5 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Non-IgM Secreting Waldenstrom Macroglobulinemia

description: A rare finding of Waldenstrom macroglobulinemia in which the neoplastic cells secrete an immunoglobulin other than IgM.


name: SAMD9L-Related Predisposition to Myelodysplastic Syndrome

description: An autosomal dominant condition caused by mutation(s) in the SAMD9L gene, encoding sterile alpha motif domain-containing protein 9-like. It is characterized by an increased risk of developing myelodysplastic syndrome.


name: Untreated Diffuse Large B-Cell Lymphoma Activated B-Cell Type

description: A finding of diffuse large B-cell lymphoma activated B-cell type that has not been treated.


Higher Risk Myelodysplastic Syndrome

description: Myelodysplastic syndrome with a score of INT-2 (intermediate-2) or higher (the category above INT-2).


name: Adult Acute Lymphoblastic Leukemia in Remission

description: A finding of acute lymphoblastic leukemia in adults that is not growing and responds to treatment.


Pure Erythroid Leukemia in Remission

description: A finding of pure erythroid leukemia that is not growing and responds to treatment.


Complete Remission in Leukemia

description: The disappearance of all signs of leukemia in response to treatment.


name: T-Cells and Natural Killer Cells Absent B-Cells Normal

description: A hematology test result indicating that a subject has a normal amount of B-cells but both T-cells and natural killer cells are either absent or found at abnormally low amounts.


Burkitt Leukemia in Remission

description: A finding of Burkitt leukemia that is not growing and responds to treatment.


Hemolysis

description: Disruption of the integrity of the erythrocyte membrane causing release of hemoglobin.


name: Extensive Bone Marrow and Blood Involvement


name: Adult T-cell leukemia/lymphoma in remission

description: A finding of adult T-cell leukemia/lymphoma that is not growing and responds to treatment.


erythroleukemia in remission

description: A finding of erythroleukemia that is not growing and responds to treatment.


Acute lymphoid leukemia in remission

description: A finding of acute lymphoblastic leukemia that is not growing and responds to treatment.


name: Immature Granulocytes in Peripheral Blood Increased

description: The presence of an increased number of granulocytic leukocytes, indicating an early-stage response to infection, inflammation, or neoplastic process.


name: Blasts 6-25 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 6 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Multiple myeloma in remission

description: A finding of plasma cell myeloma that is not growing and responds to treatment.


name: Lymphoblasts 5 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Low Risk Myelodysplastic Syndrome

description: Myelodysplastic syndrome with a total score of more than 1.5 to 3, according to the revised International Prognostic Scoring System (IPSS-R).


name: Blasts 5-20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Lymphoblasts 20 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


Leukocytosis

description: A laboratory test result indicating an increased number of white blood cells in the peripheral blood.


name: Childhood Acute Lymphoblastic Leukemia in Complete Remission


name: Atypical Lymphocytes Present in Peripheral Blood

description: A variation of lymphocytes found in a peripheral blood smear that are larger, with abundant cytoplasm, and having nuclei with multiple nucleoli.


Acute myeloid leukemia in remission

description: A finding of acute myeloid leukemia that is not growing and responds to treatment.


Chronic idiopathic neutropenia

description: A rare hematologic disorder characterized by neutropenia lasting more than three months with no identifiable cause.


Lymphopenia

description: An abnormally small number of lymphocytes in the circulating blood.


name: Blasts 0 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that immature mononuclear cells are not detected when the nucleated cells in a peripheral leukocyte sample were examined.


name: Normal Karyotype Intermediate Risk Acute Myeloid Leukemia

description: Acute myeloid leukemia with an intermediate risk of relapse or refractoriness that has a normal karyotype.


Platelet Count 50000

description: Indicates a platelet count of at least 50,000 per cubic millimeter.


name: Hypereosinophilia of Undetermined Significance

description: An interim diagnosis made during the evaluation of persistent peripheral eosinophilia in asymptomatic patients that demonstrate no clinical signs of end-organ dysfunction.


name: gp100:154-162-Reactive Peripheral Blood Lymphocytes Present

description: A laboratory test result indicating that lymphocytes reactive to amino acids 154 through 162 of the melanocyte protein PMEL (gp100) were detected in a sample.


Neonatal neutropenia (disorder)

description: A condition characterized by a decrease in the number of neutrophils in the blood below established reference ranges in a newborn.


name: acute panmyelosis with myelofibrosis in remission

description: A finding of acute panmyelosis with myelofibrosis that is not growing and responds to treatment.


name: Blasts 5-30 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Lymphoid leukemia in remission

description: A finding of lymphoid leukemia that is not growing and responds to treatment..


name: Intermediate Risk Acute Myeloid Leukemia

description: Acute myeloid leukemia with a risk of relapse or refractoriness between favorable and high risk acute myeloid leukemia, and cytogenetic and molecular genetic abnormalities that categorize it as intermediate risk acute myeloid leukemia.


Megakaryocytes Increased in Bone Marrow

description: A laboratory test result indicating abnormally high numbers of megakaryocytes in the bone marrow.


name: Diffuse Large B-Cell Lymphoma with Associated Monoclonal Small B-Cell Population in Bone Marrow

description: A finding indicating the presence of a minor population of monoclonal B-cells in the bone marrow of a patient with diffuse large B-cell lymphoma, without evidence of bone marrow infiltration by diffuse large B-cell lymphoma cells.


name: Lymphomatous Involvement of Non-Cutaneous Extranodal Site

description: A pathologic and/or clinical finding indicating the spread of a lymphomatous process to an anatomic site other than lymph nodes and skin.


name: Neoplastic Plasma Cells Under 10 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Clonal Plasma Cells in Bone Marrow

description: A finding indicating that clonal plasma cells have been detected in a bone marrow sample.


name: Blasts 2-4 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that between 2 and 4 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts 5-25 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts More Than 75 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that greater than 75 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts 1 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 1 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Untreated Adult Acute Myeloid Leukemia

description: A finding of acute myeloid leukemia in adulthood that has not been treated.


High Risk Acute Lymphoblastic Leukemia

description: Acute lymphoblastic leukemia with clinicopathologic, cytogenetic, and molecular findings that define an acute lymphoblastic leukemia as high risk.


Hodgkin's disease in remission

description: A finding of Hodgkin lymphoma that is not growing and responds to treatment.


Untreated Childhood Myeloid Neoplasm

description: A finding of myeloid neoplasm in childhood that has not been treated.


name: Myeloblasts 10-19 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Central Nervous System Involvement in Recurrent B Acute Lymphoblastic Leukemia

description: A finding indicating the involvement of the central nervous system in a patient with recurrence of B acute lymphoblastic leukemia.


High Risk Acute Leukemia

description: Acute leukemia patients are stratified into the high risk group when their minimal residual disease levels are higher than 0.05%.


name: Myeloblasts More than 5 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Lymphoblasts 5-25 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


IgA Multiple Myeloma

description: A finding of multiple myeloma in which the heavy chain of the immunoglobulin A is defective. This is the second most common type of multiple myeloma (~20%).


name: Blasts Under 30 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 30 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Mast Cells 10 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are mast cells.


myelophthisic anemia

description: A laboratory test result indicating an abnormal amount of circulating nucleated red blood cells and immature red blood cells.


name: Refractory High Risk Chronic Myelomonocytic Leukemia

description: High risk chronic myelomonocytic leukemia that does not respond to treatment.


name: Neoplastic Plasma Cells Present in Bone Marrow

description: A finding indicating that neoplastic plasma cells were detected in a bone marrow sample.


High Grade Myeloid Neoplasm

description: A finding indicating that a myeloproliferative process has high-grade pathologic and/or clinical features.


name: Neoplastic Plasma Cells 20 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Blasts 21-30 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 21-30 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: IgM Multiple Myeloma (not Waldenstrom Macroglobulinemia)

description: A finding of multiple myeloma in which the heavy chain of the immunoglobulin M is defective. This finding is seen in other lymphocytic/plasmacytic disorders as well, including Waldenstrom macroglobulinemia.


name: Lymphoblasts 5 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


name: Myeloblasts 5-19 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: CD5-Positive Blast Cells Greater than 50 Percent

description: A semi-quantitative microscopic finding indicating that more than 50% of the immature blood cells in a sample express CD5.


name: Blasts More than 25 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Neoplastic Plasma Cells 5 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that at least 5 percent of the leukocytes in a peripheral blood sample are neoplastic plasma cells.


Light chain myeloma

description: A finding of multiple myeloma in which  the light chain (kappa or lambda) of the immunoglobulin is defective.


name: Blasts 20,000 or Less of Peripheral Blood White Cells

description: A quantitative microscopic finding indicating that 20,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Lymph Node Involvement

description: A finding indicating the spread of cancer to regional or distant lymph node(s).


name: ANKRD26-Related Predisposition to Leukemia and Thrombocytopenia

description: An autosomal dominant condition caused by mutation(s) in the ANKRD26 gene, encoding ankyrin repeat domain-containing protein 26. It is characterized by moderate thrombocytopenia and an increased risk of developing myelodysplastic syndrome/acute myeloid leukemia.


name: Atypical Chronic Myeloid Leukemia, BCR-ABL1 Negative in Remission

description: A finding of atypical chronic myeloid leukemia, BCR-ABL1 negative that is not growing and responds to treatment.


name: Childhood Acute Myeloid Leukemia in Remission

description: A finding of acute myeloid leukemia of childhood that is not growing and responds to treatment.


name: Blasts More than 5 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Bone Marrow and Extramedullary Involvement

description: A finding indicating the involvement of the bone marrow and other anatomic sites, which may include the peripheral blood, lymph nodes, and/or extranodal sites, by a hematopoietic neoplasm.


name: Blasts Under 10 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts Less Than 50 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Severe Myelosuppression

description: Severe reduction of bone marrow function secondary to drug treatment. It results in anemia, leukopenia, and thrombocytopenia.


Platelet Count 20000

description: Indicates a platelet count of at least 20,000 per cubic millimeter.


name: Prolymphocytes Exceed 55 Percent of Lymphoid Cells in the Peripheral Blood

description: A semi-quantitative microscopic finding indicating that more than 55 percent of the lymphoid cells in a peripheral blood sample are prolymphocytes.


name: Complete Remission in Acute Myeloid Leukemia with Partial Hematologic Recovery

description: An endpoint in the treatment of acute myeloid leukemia, defined as a finding of less than 5 percent bone marrow blasts, absolute neutrophil count greater than 500 cells per microliter, and platelet count greater than 50,000 cells per microliter.


Platelet Engraftment

description: A platelet count of 20,000 to 50,000 (platelets per microliter of blood) is a sign of platelet engraftment. For patients who receive marrow or peripheral blood cells, platelet engraftment often happens at the same time or a little bit after neutrophil engraftment. For patients who receive cord blood, it may be 8 weeks or longer after transplant before platelet engraftment occurs.


Megakaryocytic leukemia in remission

description: A finding of acute megakaryoblastic leukemia that is not growing and responds to treatment.


Peripheral Blood Basophilia

description: A finding indicating abnormally high levels of basophils in a peripheral blood sample.


name: Myeloblasts 5 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: acute monoblastic/monocytic leukemia in remission

description: A finding of acute monoblastic and monocytic leukemia that is not growing and responds to treatment.


name: Refractory Acute Myeloid Leukemia due to Lineage Switch from B Acute Lymphoblastic Leukemia, KMT2A-Rearranged

description: A finding of acute myeloid leukemia due to lineage switch from B acute lymphoblastic leukemia, KMT2A-rearranged, that is resistant to treatment.


Solitary Plasmacytoma in Remission

description: A finding of solitary plasmacytoma that is not growing and responds to treatment.


name: T-Cells and B-Cells Absent and Natural Killer Cells Normal

description: A hematology test result indicating that a subject has a normal amount of natural killer cells but B-cells and T-cells are either absent or found at abnormally low amounts.


Leukemia in remission

description: A finding of leukemia that is not growing and responds to treatment


Normal Bone Marrow Test Result

description: A laboratory test result indicating normal bone marrow cells.


name: Blasts 15 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at most 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Decrease in Blasts

description: A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has decreased when compared to a prior sample from the same subject.


name: Lymphoblasts Less than 5 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of lymphoid origin.


name: Recurrent Very High Risk Myelodysplastic Syndrome

description: The reemergence of very high-risk myelodysplastic syndrome after a period of remission.


Granulocytes Increased in Bone Marrow

description: An indication that the number of granulocytes in a bone marrow sample have increased when compared to a normal baseline or a previous sample measurement.


name: Recurrent Acute Myeloid Leukemia due to Lineage Switch from B Acute Lymphoblastic Leukemia, KMT2A-Rearranged

description: A finding of reemergence of acute myeloid leukemia due to lineage switch from B acute lymphoblastic leukemia, KMT2A-rearranged.


name: Myeloblasts Under 5 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of myeloid origin.


name: Blasts 2 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 2 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Blast Cells Present

description: A laboratory test result indicating the presence of blast cells in a blood sample.


Eosinophilia

description: Abnormal high level of eosinophils in the blood.


Untreated Chronic Lymphocytic Leukemia

description: A finding of chronic lymphocytic leukemia that has not been treated.


name: Complete Remission in Leukemia with Incomplete Hematologic Recovery

description: The disappearance of all signs of leukemia in response to treatment with residual neutropenia (less than 1,000 per microliter), with or without complete platelet recovery.


Childhood Myeloid Leukemia in Remission

description: A finding of childhood myeloid leukemia that is not growing and responds to treatment.


name: Blasts 6 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 6 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Normocellular Bone Marrow

description: A finding in a bone marrow specimen indicating that the cellularity observed is within the expected range.


Abnormal Hematology Test Result

description: A laboratory test result that indicates the presence of abnormal peripheral blood and/or bone marrow values.


Acute Bilineal Leukemia in Remission

description: A finding of acute bilineal leukemia that is not growing and responds to treatment.


Non-M3 Acute Myeloid Leukemia

description: A finding indicating that an acute myeloid leukemia does not have the characteristics of M3 acute myeloid leukemia, according to the FAB classification criteria.


name: Blasts Under 15 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 15 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts 50 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 50 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: T-Cells, B-Cells and Natural Killer Cells Absent

description: A hematology test result indicating that a subject's T-cells, B-cells and natural killer cells are either absent or found at abnormally low amounts.


Bi-Cytopenia

description: A deficiency of two of the three blood cell lineages; erythrocytes, leukocytes and platelets.


name: Blasts 20 Percent or Less of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 20 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Benign ethnic neutropenia

description: Chronic neutropenia in the absence of secondary causes, other cytopenia, splenomegaly, lymphadenopathy, or increased risk of infection. It occurs more frequently in individuals of African, Middle Eastern, and West Indian descent.


name: Neoplastic Plasma Cells 10-60 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 60 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Very High Risk Myelodysplastic Syndrome

description: Myelodysplastic syndrome with more than 6 points, according to the revised International Prognostic Scoring System (IPSS-R).


name: Neoplastic Plasma Cells Under 5 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


name: Erythroid Precursors 80 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 80 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


name: Recurrent High Risk Chronic Myelomonocytic Leukemia

description: The reemergence of high risk chronic myelomonocytic leukemia after a period of remission.


Bone Marrow Involvement

description: Infiltration of the bone marrow by a malignant neoplasm.


name: Blasts 5 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Neoplastic Plasma Cells Between 20 and 50 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 20 and 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Non-Hodgkin's lymphoma in remission

description: A finding of non-Hodgkin lymphoma that is not growing and responds to treatment.


name: Atypical Lymphocytes Present in Bone Marrow

description: A finding indicating that atypical lymphocytes were detected in a bone marrow sample.


Standard Risk Acute Leukemia

description: Acute leukemia patients are stratified into the standard risk group when their minimal residual disease levels are lower than 0.05%.


name: Neoplastic Plasma Cells Under 50 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 50 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Acute myelomonocytic leukemia, in remission

description: A finding of acute myelomonocytic leukemia that is not growing and responds to treatment.


name: Blasts 25 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 25 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Neoplastic Plasma Cells 60 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 60 percent or more of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Blasts More than 20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts 60 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 60 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Neoplastic Plasma Cells More than 30 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Very High Risk Chronic Myelogenous Leukemia, BCR-ABL1 Positive

description: A BCR-ABL1 positive chronic myelogenous leukemia with clinicopathologic, cytogenetic, and molecular findings that define a chronic myelogenous leukemia as very high risk.


name: Neoplastic Promyelocytes in Bone Marrow Markedly Increased


Bone Marrow Test Result

description: The results of a bone marrow test.


name: Neoplastic Plasma Cells 10-59 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 59 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Malignant lymphoma in remission

description: A finding of lymphoma that is not growing and responds to treatment.


name: Myeloblasts 1 Percent of Peripheral Blood White Cells

description: A microscopic finding indicating that 1 percent of the white cells in a peripheral blood sample are myeloblasts.


Bone marrow depression

description: A laboratory finding indicating decreased number of hematopoietic cells in the bone marrow. It may result from decreased proliferation of all or part of the hematopoietic series (erythroid, myeloid, and megakaryocytic). Microscopically, the hematopoietic cells are replaced by adipocytes.


name: Hemoglobinuria due to hemolysis from external causes

description: Hemoglobin in the urine that is due to hemolysis from an external cause.


Regional Lymph Node Involvement

description: A finding indicating that a malignant neoplasm has spread to regional lymph nodes.


name: Acute Myeloid Leukemia due to Lineage Switch from B Acute Lymphoblastic Leukemia, KMT2A-Rearranged

description: A finding of acute myeloid leukemia resulting from lineage switch from B acute lymphoblastic leukemia, KMT2A-rearranged.


name: Neoplastic Plasma Cells Under 20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Aberrant Clonal Plasma Cell Population

description: A population of plasma cells which display atypical morphological features, an abnormal immunophenotypic profile, and molecular genetic characteristics of clonality (monoclonality).


Blasts Less than or Equal to 10000/mm3

description: A quantitative microscopic finding indicating that immature mononuclear cells are found at less than or equal to 10000 per cubic millimeter field in a sample.


Erythroid Series Cells Decreased

description: A morphologic finding indicating the presence of a decreased number of erythroid cells in the bone marrow.


name: Untreated Hematopoietic and Lymphoid Cell Neoplasm

description: A finding of hematopoietic or lymphoid cell neoplasm that has not been treated.


Myeloid sarcoma in remission

description: A finding of myeloid sarcoma that is not growing and responds to treatment.


name: Blasts Expressing B-Lymphoid and T-Lymphoid Markers Present

description: A finding indicating the presence of blasts with evidence of both B-cell and T-cell lineage assignment.


Chemotherapy Related Agranulocytosis

description: Agranulocytosis that occurs with chemotherapy.


name: T-cell prolymphocytic leukemia in remission

description: A finding of T-cell prolymphocytic leukemia that is not growing and responds to treatment.


name: Acute Myeloid Leukemia due to Lineage Switch from Acute Leukemia of Ambiguous Lineage

description: A finding of acute myeloid leukemia resulting from lineage switch from acute leukemia of ambiguous lineage.


name: Blasts 0.1 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 0.1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts Expressing B-Lymphoid and Myeloid Markers Present

description: An indication that immature hematopoetic cells expressing B-lymphoid and myeloid markers were detected in a sample.


Peripheral Blood Eosinophilia

description: A finding indicating abnormally high levels of eosinophils in a peripheral blood sample.


Untreated Hairy Cell Leukemia

description: A finding of hairy cell leukemia that has not been treated.


Blasts of Mixed Phenotype Present

description: An indication that immature hematopoetic cells from two or more lineages were detected in a sample.


name: Myeloblasts 20 Percent or More of Bone Marrow Non-Erythroid Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the non-erythroid nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Myeloid Neoplasm Finding

description: A term that refers to clinicopathologic findings related to myeloid neoplasms.


Myeloid Engraftment

description: Myeloid recovery after bone marrow transplantation. It manifests with the production of new blood cells. It takes approximately two to four weeks after the bone marrow is infused with the transplanted stem cells for the recovery to occur.


name: Blasts 25 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 25 percent or more of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating less than 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


Diffuse Bone Marrow Involvement

description: Diffuse infiltration of the bone marrow by a malignant neoplasm.


name: ETV6-Related Predisposition to Leukemia and Thrombocytopenia

description: An autosomal dominant condition caused by mutation(s) in the ETV6 gene, encoding transcription factor ETV6. It is characterized by an increased risk of developing thrombocytopenia and diverse hematologic malignancies, including myelodysplastic syndrome, acute myeloid leukemia, chronic myelomonocytic leukemia, B lymphoblastic leukemia, and plasma cell myeloma.


name: Untreated Childhood Acute Lymphoblastic Leukemia

description: A finding of acute lymphoblastic leukemia in childhood that has not been treated.


name: Neoplastic Granulocytes and Precursors 20 Percent or More of Bone Marrow Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are comprised of neoplastic cells with features of the granulocyte lineage.


Basophilopenia

description: Abnormally low level of basophils in the blood.


Acute leukemia in remission

description: A finding of acute leukemia that is not growing and responds to treatment.


Pancytopenia caused by medication

description: Pancytopenia caused by exposure to certain drugs.


name: Recurrent High Risk Myelodysplastic Syndrome

description: The reemergence of high risk myelodysplastic syndrome after a period of remission.


High Risk Multiple Myeloma

description: A term that refers to clinicopathologic, cytogenetic, and molecular findings that define a myeloma as high risk. They include: ISS (International Staging System) stage III, elevated LDH, t(4;14), del(17/17p), t(14;16), t(14;20), hypodiploidy, gain(1q), and gene expression profile with high risk signature in which several genes are mapped to chromosome 1(q) and (1p).


name: Blasts 5-19 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Ineffective Hematopoiesis

description: A dysfunction in the production of blood cells, resulting in decreased numbers of mature, functioning blood cells of all lines in circulation.


name: Myeloblasts 20 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Homozygous Hemoglobin C or E, Non-Disease

description: A state in which both beta-globin alleles code for a C or E variant but which leads to such minor changes to the hemoglobin that it does not cause disease.


name: T-Cells Absent and Normal Natural Killer Cells and B-Cells

description: A hematology test result indicating that a subject has a normal amount of B-cells and natural killer cells but T-cells are either absent or found at abnormally low amounts.


Bone Marrow Dysplasia Present

description: A laboratory test result indicating abnormal bone marrow cells.


name: Neoplastic Plasma Cells Between 10 and 30 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 10 and 30 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Blasts 75 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 75 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Erythroid Precursors 50 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 50 percent of the nucleated cells in a bone marrow sample are immature cells of the erythroid lineage.


name: Ring Sideroblasts 15 Percent or More of Erythroid Precursors

description: A semi-quantitative microscopic finding indicating 15 percent or more of the cells in a sample of erythroid precursor cells are ring sideroblasts.


name: Blasts 30,000 or Less of Peripheral Blood White Cells

description: A quantitative microscopic finding indicating that 30,000 or fewer nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Myeloblasts 5 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells of myeloid origin.


name: Adult Acute Lymphoblastic Leukemia in Partial Remission


Sustained Engraftment at Day 100

description: Sustained donor-derived neutrophil recovery with achievement of donor chimerism equal or greater than 90% at day 100.


name: Neoplastic Plasma Cells 30 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


name: Complete Remission in Myelodysplastic Syndrome with Partial Hematologic Recovery

description: Myelodysplastic syndrome treatment response assessment defined as follows: no hemoglobin threshold; platelet count equal or greater than 50,000 cells per microliter; and absolute neutrophil count equal or greater than 500 cells per microliter. (Consensus proposal for revised International Working Group 2023 response criteria for higher-risk myelodysplastic syndromes. Blood 141 (17): 2047-2061, 2023)


name: Lymphoma Cells More than 25 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that more than 25 percent of the nucleated cells in a bone marrow sample are lymphoma-derived cells.


Plasma cell leukemia in remission

description: A finding of plasma cell leukemia that is not growing and responds to treatment.


name: Blasts 11-20 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 11 and 20 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Hairy-cell leukemia, in remission

description: A finding of hairy cell leukemia that is not growing and responds to treatment.


High Risk Myelodysplastic Syndrome

description: Myelodysplastic syndrome with more than 4.5 to 6 points, according to the revised International Prognostic Scoring System (IPSS-R).


name: Blasts Under 20 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 20 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Chronic myeloid leukemia in remission

description: A finding of chronic myelogenous leukemia, BCR-ABL1 positive that is not growing and responds to treatment.


M3 Marrow

description: A bone marrow finding in which the blasts constitute more than 25% of the nucleated cells. (Children's Oncology Group)


Plasma Cell Neoplasm in Remission

description: A finding of plasma cell neoplasm that is not growing and responds to treatment.


name: Blasts 5 Percent or Less of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or less of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Blasts 30 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 30 percent or less of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Autoimmune cytopenia

description: Cytopenia caused by autoantibodies against the red blood cells, neutrophils, and/or platelets.


name: Markedly Elevated White Blood Cell Count Present

description: A finding indicating the presence of a markedly elevated white blood cell count in the peripheral blood.


Hypercellular Bone Marrow

description: An abnormal finding in a bone marrow aspirate or biopsy specimen indicating increased cellularity. It can result from hyperplasia of one or more hematopoietic cell lines or malignant neoplasms that affect the bone marrow.


Chronic lymphoid leukemia in remission

description: A finding of chronic lymphocytic leukemia that is not growing and responds to treatment.


IgE Multiple Myeloma

description: A finding of multiple myeloma in which the heavy chain of the immunoglobulin E is defective. This multiple myeloma subtype is extremely rare.


Myeloblasts Present

description: A microscopic finding indicating the presence of immature mononuclear cells of myeloid origin in a sample.


name: Neoplastic Plasma Cells 40 Percent or Less of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that 40 percent or less than of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Low Leukocyte Count

description: A lower than average level of leukocytes in a sample.


name: Bone Marrow Blasts Percentage Decreased by 5 to 25 Percent

description: A semiquantitative finding indicating that the amount of immature mononuclear cells in a subject's sample of nucleated cells from bone marrow has decreased by between 5 and 25 percent from a previous percentage recorded for a sample from that subject.


Leukemia Finding

description: A term that refers to clinicopathologic findings related to leukemias.


name: Genetic Predisposition to Hematopoietic Disorder

description: The predisposition of an individual to develop a hematopoietic disorder based on their heredity.


name: Focal Splenic Involvement by Hodgkin Lymphoma with Hilar Lymphadenopathy

description: A finding indicating that Hodgkin lymphoma has spread to the spleen focally and there is associated involvement of the hilar lymph nodes.


Cytopenia

description: A laboratory test result indicating an abnormally low quantity of circulating blood cells.


name: IgM Secreting Waldenstrom Macroglobulinemia

description: A finding of Waldenstrom macroglobulinemia in which the neoplastic cells secrete IgM. Secretion of an immunoglobulin other than IgM is rare.


name: BCR-JAK2 Fusion in Hematologic Malignancies

description: An extremely rare finding in hematologic malignancies indicating an association with BCR-JAK2 fusion gene that results from t(9;22)(p24;q11.2). Most cases exhibit chronic myelogenous leukemia-type phenotype.


name: Diffuse Large B-Cell Lymphoma in Partial Remission

description: A finding of diffuse large B-cell lymphoma  with some evidence of disease after therapy.


name: Neoplastic Plasma Cells 10 Percent of Bone Marrow Nucleated Cells

description: A microscopic finding indicating that 10 percent of the nucleated cells in a bone marrow sample are neoplastic plasma cells.


Lymphoma Finding

description: A term that refers to clinicopathologic findings related to lymphomas.


name: Recurrent Acute Myeloid Leukemia due to Lineage Switch from Acute Leukemia of Ambiguous Lineage

description: A finding of reemergence of acute myeloid leukemia due to lineage switch from acute leukemia of ambiguous lineage.


name: Blasts 5-19 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 5-19 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


Chronic leukemia in remission

description: A finding of chronic leukemia that is not growing and responds to treatment.


Low Natural Killer Cell Activity

description: A decrease in the ability of peripheral mononuclear blood cells to lyse MHC I deficient target cells either due to low numbers of natural killer cells, or a reduction of their lytic activity.


name: Blasts 5-10 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 5 and 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


High Risk Acute Myeloid Leukemia

description: Acute myeloid leukemia characterized by poor response to induction chemotherapy and poor long-term survival following treatment with consolidation chemotherapy.


name: Lymphoblasts 5 Percent or More of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that 5 percent or more of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells of lymphoid origin.


Acute Erythroid Leukemia in Remission

description: A finding of acute erythroid leukemia that is not growing and responds to treatment.


Untreated Prolymphocytic Leukemia

description: A finding of prolymphocytic leukemia that has not been treated.


Sustained Engraftment

description: Sustained donor-derived neutrophil recovery with achievement of donor chimerism equal or greater than 90%.


name: Blasts 10 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 10 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Retroperitoneal Lymph Node Involvement

description: A finding indicating the spread of disease to a retroperitoneal lymph node.


name: Blasts 2 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 2 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


IgD Multiple Myeloma

description: A finding of multiple myeloma in which the heavy chain of the immunoglobulin D is defective. This multiple myeloma subtype is very rare (~1%).


name: High Risk Chronic Myelogenous Leukemia, BCR-ABL1 Positive

description: A BCR-ABL1 positive chronic myelogenous leukemia with clinicopathologic, cytogenetic, and molecular findings that define a chronic myelogenous leukemia as high risk.


name: Blasts 1 Percent or More of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that at least 1 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


name: Blasts Increased by Greater than or Equal to 50 Percent

description: A semi-quantitative microscopic finding indicating that the amount of immature mononuclear cells in a sample from a certain subject has increased by at least 50 percent over a prior sample from the same subject.


name: Blasts Under 10 Percent of Peripheral Blood White Cells

description: A semi-quantitative microscopic finding indicating that less than 10 percent of the nucleated cells in a peripheral leukocyte sample are immature mononuclear cells.


name: Neoplastic Plasma Cells More than 5 Percent of Peripheral Blood White Cells

description: A microscopic finding indicating that more than 5 percent of the nucleated cells in a peripheral leukocyte sample are neoplastic plasma cells.


name: Blasts 6-19 Percent of Bone Marrow Nucleated Cells

description: A semi-quantitative microscopic finding indicating that between 6 and 19 percent of the nucleated cells in a bone marrow sample are immature mononuclear cells.


Multilineage Dysplasia Present

description: A hematologic test result indicating dysplastic changes in two or more of the myeloid cell lineages in the bone marrow.


fatty acyl-CoA reductase 1 upregulation

description: A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.


fatty acyl-CoA reductase defects

description: Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the FAR1 gene.


phosphatidylcholine O-42:5

An alkyl,acyl-sn-glycero-3-phosphocholine in which the alkyl or acyl groups at positions 1 and 2 contain a total of 42 carbons and 5 double bonds.


alpha-mycolic acid

A mycolic acid produced by Mycobacterium tuberculosis. Its structure is that of hexacosanoic acid substituted at position 2 by a 1-hydroxy-16-{2-[14-(2-octadecylcyclopropyl)tetradecyl]cyclopropyl}hexadecyl group.


A 3-oxo Delta(4)-steroid that is estr-4-ene substituted by a beta-hydroxy group at position 17 and an alpha-methyl group at position 2.


A  substituted aniline that is a benzene ring substituted with an amino group at position 1 and a trifluoromethyl group at position 4.


name: Other Specified Diabetes Mellitus with Proliferative Diabetic Retinopathy with Macular Edema, Bilateral

description: Evidence of other specified diabetes mellitus with proliferative diabetic retinopathy with macular edema that is bilateral not specified elsewhere.


aminochromene

Any chromene bearing one or more substituted or unsubstituted amino groups.


A member of the class of chromenes that is 4H-chromene substituted by amino, cyano, 3-nitrophenyl, and dimethylamino groups at positions 2, 3, 4 and 7, respectively. It exhibits anti-cancer activity.


An iminium betaine that consists of 4-{2-[7-(diethylamino)-2-oxo-2H-chromen-3-yl]ethenyl}pyridine-3-sulfonate carryiing a 5-carboxypentyl substituent on the pyridine nitrogen.


A member of the class of chromenes that is 4H-chromene substituted by amino, cyano, 2-methoxyphenyl, and dimethylamino groups at positions 2, 3, 4 and 7, respectively. It exhibits anti-angiogenic activity.


age-related macular degeneration

description: Age-related loss of vision in the central portion of the retina (macula), secondary to retinal degeneration.


age related macular degeneration 4

description: Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene.


age related macular degeneration 13

description: An inherited susceptibility or predisposition to developing age related macular degeneration in which the cause of the disease is a mutation in the CFI gene.


Kidney Cancer cM1 TNM Finding v8

description: Kidney cancer with distant metastasis. (from AJCC 8th Ed.)


Kidney Cancer TNM Finding v8

description: A finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system. This classification system applies to carcinomas arising in the kidney. It does not apply to urothelial carcinomas (are staged according to the classification for renal pelvis and ureter), lymphomas (are staged according to the classification for Hodgkin and non-Hodgkin lymphoma), sarcomas (are staged according to the classification for soft tissue sarcoma of the abdomen and thoracic visceral organs), and Wilms tumor (no AJCC staging system).  (from AJCC 8th Ed.)


Kidney Cancer pT0 TNM Finding v8

description: Kidney cancer with no evidence of primary tumor. (from AJCC 8th Ed.)


Kidney Cancer cM0 TNM Finding v8

description: Kidney cancer without evidence of distant metastasis. (from AJCC 8th Ed.)


Kidney Cancer pT1b TNM Finding v8

description: Kidney cancer in which the tumor measures more than 4 cm but 7 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)


name: Kidney Cancer Clinical Distant Metastasis TNM Finding v8

description: A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.


Kidney Cancer pT3b TNM Finding v8

description: Kidney cancer in which the tumor extends into the vena cava below the diaphragm. (from AJCC 8th Ed.)


Kidney Cancer Clinical TNM Finding v8

description: A clinical finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system.


Kidney Cancer pTX TNM Finding v8

description: Kidney cancer in which the primary tumor cannot be assessed. (from AJCC 8th Ed.)


Kidney Cancer pN0 TNM Finding v8

description: Kidney cancer with no regional lymph node metastasis. (from AJCC 8th Ed.)


Kidney Cancer pT2a TNM Finding v8

description: Kidney cancer in which the tumor measures more than 7 cm but 10 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)


Kidney Cancer pT1a TNM Finding v8

description: Kidney cancer in which the tumor measures 4 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)


Kidney Cancer pNX TNM Finding v8

description: Kidney cancer in which the regional lymph nodes cannot be assessed. (from AJCC 8th Ed.)


Kidney Cancer Pathologic TNM Finding v8

description: A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system.


Kidney Cancer pT4 TNM Finding v8

description: Kidney cancer in which the tumor invades beyond Gerota's fascia (including contiguous extension into the ipsilateral adrenal gland). (from AJCC 8th Ed.)


Kidney Cancer pT2b TNM Finding v8

description: Kidney cancer in which the tumor measures more than 10 cm in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)


name: Kidney Cancer Pathologic Regional Lymph Nodes TNM Finding v8

description: A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of regional lymph nodes.


Kidney Cancer pT3c TNM Finding v8

description: Kidney cancer in which the tumor extends into the vena cava above the diaphragm or invades the wall of the vena cava. (from AJCC 8th Ed.)


name: Kidney Cancer Pathologic Primary Tumor TNM Finding v8

description: A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to staging of the primary tumor.


Kidney Cancer pT3a TNM Finding v8

description: Kidney cancer in which the tumor extends into the renal vein or its segmental branches, or invades the pelvicalyceal system, or invades perirenal and/or renal sinus fat but not beyond Gerota's fascia. (from AJCC 8th Ed.)


Kidney Cancer pN1 TNM Finding v8

description: Kidney cancer with metastasis in regional lymph node(s). (from AJCC 8th Ed.)


Kidney Cancer pT3 TNM Finding v8

description: Kidney cancer in which the tumor extends into major veins or perinephric tissues, but not into the ipsilateral adrenal gland and not beyond Gerota's fascia. (from AJCC 8th Ed.)


name: Kidney Cancer Pathologic Distant Metastasis TNM Finding v8

description: A pathologic finding about one or more characteristics of kidney cancer, following the rules of the TNM AJCC v8 classification system as they pertain to distant metastases.


Kidney Cancer pT2 TNM Finding v8

description: Kidney cancer in which the tumor measures more than 7 cm in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)


Kidney Cancer pT1 TNM Finding v8

description: Kidney cancer in which the tumor measures 7 cm or less in greatest dimension and is limited to the kidney. (from AJCC 8th Ed.)


melioidosis

description: An infection that is caused by Burkholderia pseudomallei, which is found in soil and water; symptoms vary widely, but most commonly include fever, cough, pneumonia, arthralgia, myalgia, and skin ulceration.


rosoxacin

A quinolinemonocarboxylic acid that is 1,4-dihydroquinoline-3-carboxylic acid that is substituted by an ethyl group at position 1 and by a pyridin-4-yl group at position 7. An antibacterial drug, active against Neisseria gonorrhoeae, it has been used for treating urinary tract infections and certain sexually transmitted diseases.


A  trimethoxyflavone that is tricin in which the hydroxy group at position 7 has been replaced by a methoxy group. It has been isolated from the stems of Sinocalamus affinis.


name: Mixed phenotype acute leukemia T/myeloid

description: A rare mixed phenotype acute leukemia in which the blasts express T-lymphoid and myeloid lineage markers but are negative for KMT2A rearrangement and t(9;22)(q34;q11.2) translocation. The prognosis is usually unfavorable.


SUCCINYLACETONE

A dioxo monocarboxylic acid that is heptanoic acid in which oxo groups replace the hydrogens at positions 4 and 6. It is an abnormal metabolite of the tyrosine metabolic pathway and a marker for type 1 tyrosinaemia.


N-demethylmirtazapine

A benzazepine metabolite resulting from demethylation of the antidpressant, mirtazapine.


bromoarene

A compound derived from an arene by replacing a hydrogen atom with a bromine atom.


bromobiphenyl

A bromoarene that consists of a biphenyl skeleton substituted by one or more bromo groups.


polybromobiphenyl

A biphenyl compound containing between 2 and 10 bromine atoms attached to the two benzene rings.