Complex Endometrial Hyperplasia with Atypia

A hyperplasia characterized by excessive proliferation of endometrial cells, resulting in the formation of complex epithelial structures.  It is associated with cytologic atypia and an increased risk of endometrial adenocarcinoma.


Ampulla of Vater Enterochromaffin Cell Serotonin-Producing Neuroendocrine Tumor

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

A well differentiated neuroendocrine tumor that arises from the ampulla of Vater and the periampullary region.  It produces serotonin.


gonococcal cystitis

An cystitis caused by infection with Neisseria gonorrhoeae.


acute gonococcal cystitis

Acute form of gonococcal cystitis.


amine

A compound formally derived from ammonia by replacing one, two or three hydrogen atoms by hydrocarbyl groups.


(S)-(+)-clenbuterol

The (S)-enantiomer of clenbuterol.


A member of the class of  propanolamines that is propane with a hydroxy substituent at C-1 and an amino substituent at C-2, making it both a primary amine and a primary alcohol.


(R)-Dobutamine

The (R)-enantiomer of dobutamine.


Pyrrole

A tautomer of pyrrole that has the double bonds at positions 2 and 4.


enamine

An amine RNR'R'' where R has a double bond adjacent to the amine nitrogen.


The (S)-enantiomer of amfepramone.


secondary amine

A compound formally derived from ammonia by replacing two hydrogen atoms by hydrocarbyl groups.


A propanoate ester that is propyl propanoate substituted by a benzyl and phenyl group at position 1, a methyl group at position 2 and a dimethylamino group at position 3.


primary arylamine

A primary amine formally derived from ammonia by replacing one hydrogen atom by an aryl group. R-NH2 where R is an aryl group.


aralkylamine

An alkylamine in which the alkyl group is substituted by an aromatic group.


alkylamine

Any primary amine in which the substituent attached to nitrogen is an alkyl group.


(R)-Clenbuterol

The (R)-enantiomer of clenbuterol.


Tranylcypromine

A member of the class of cyclopropanes carrying amino and phenyl substituents at positions 1 and 2 respectively.


amino fatty acid

A fatty acid containing at least one amino substituent.


omega-amino fatty acid

Any fatty acid n atoms long having an amino substituent at position n (omega).


amphetamines

Amines that constitute a class of central nervous system stimulants based on the structure of the parent amphetamine 1-phenylpropan-2-amine.


primary amine

A compound formally derived from ammonia by replacing one hydrogen atom by a hydrocarbyl group.


alkylamines

Any amine formally derived from ammonia by replacing one, two or three hydrogen atoms by alkyl groups.


tertiary amine

A compound formally derived from ammonia by replacing three hydrogen atoms by hydrocarbyl groups.


non-syndromic syndactyly

A congenital condition characterized by webbing between the fingers and/or toes, joining the digits together. In rare cases, the joining of the fingers or toes may involve bony fusion between the digits. Common causes include Down Syndrome and hereditary syndactyly.


syndactyly type 5

Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.


non-syndromic synpolydactyly

A synpolydactyly that is not part of a larger syndrome.


polysyndactyly 4

Polysyndactyly or PPD4 is a form of preaxial polydactyly of fingers, a limb malformation syndrome, characterized by the presence of a thumb showing the mildest degree of duplication, being broad, bifid or with radially deviated distal phalanx. Syndactyly of various degrees of third-and-fourth fingers is occasionally present.


syndactyly type 1

Syndactyly type 1 (SD1), also named zygodactyly in the past, is a distal limb malformation characterized by complete or partial webbing between the 3th and 4th fingers and/or the 2nd and 3rd toes.


mesoaxial synostotic syndactyly with phalangeal reduction

Mesoaxial synostotic syndactyly (MSSD) with phalangeal reduction is a novel and distinct form of non-syndromic syndactyly including complete syndactyly of the 3rd and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.


syndactyly type 6

Syndactyly type 6 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers.


syndactyly type 4

A very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).


syndactyly type 8

Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.


synpolydactyly type 2

Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.


syndactyly type 3

Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers.


familial avascular necrosis of femoral head

Avascular necrosis of femoral head (ANFH) is a severely disabling disease characterized by progressive groin pain, a limping gait, leg length discrepancy, collapse of the subchondral bone, limitation of hip function and eventual degeneration of the hip joint requiring total hip arthroplasty.


Advanced Malignant Small Intestinal Neoplasm

A malignant small intestinal neoplasm that has spread extensively to other anatomic sites or is no longer responding to treatment.


Malignant neoplasm of small intestine, incl duodenum metastatic

A malignant small intestinal neoplasm that has spread from its original site of growth to another anatomic site.


Locally Advanced Small Intestinal Carcinoma

Small intestinal carcinoma that has spread to nearby tissues or lymph nodes.


Advanced Small Intestinal Small Cell Neuroendocrine Carcinoma

A small intestinal small cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine adenocarcinoma metastatic

An adenocarcinoma that arises from the small intestine and has metastasized to other anatomic sites.


Advanced Small Intestinal Neuroendocrine Carcinoma

A small intestinal neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Locally Advanced Small Intestinal Adenocarcinoma

Small intestinal adenocarcinoma that has spread from its original site of growth to nearby tissues or lymph nodes.


Advanced Small Intestinal Large Cell Neuroendocrine Carcinoma

A small intestinal large cell neuroendocrine carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Small intestine carcinoma metastatic

A carcinoma that arises from the small intestine and it has metastasized to other anatomic sites.


Metastatic Small Intestinal Neuroendocrine Carcinoma

A small intestinal neuroendocrine carcinoma that has spread from its original site of growth to another anatomic site.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14


myopathy caused by variation in GMPPB

Any myopathy in which the cause of the disease is a variation in the GMPPB gene.


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14


autosomal recessive limb-girdle muscular dystrophy type 2T

Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency.


cytochrome-c oxidase deficiency disease

A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.


ENSAT Stage III Adrenal Cortical Carcinoma

Stage III includes: T3/T4, N0/N1, M0.  Tumor of any size that has spread to the fat outside the adrenal gland or into nearby organs or tissues and/or has spread to the regional lymph nodes. (ENSAT 7th Ed, 2009)


Adrenal Cortical Carcinoma by ENSAT Stage

A term that refers to the staging of adrenal cortical carcinoma according to the European Network for the Study of Adrenal Tumors (ENSAT).


ENSAT Stage I Adrenal Cortical Carcinoma

Stage I includes: T1, N0, M0.  Tumor 5 cm or less in greatest dimension. The tumor has not invaded the surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues.  (ENSAT 7th Ed, 2009)


ENSAT Stage II Adrenal Cortical Carcinoma

Stage II includes: T2, N0, M0. Tumor greater than 5 cm. The tumor has not invaded surrounding tissues or organs and has not spread to lymph nodes or distant organs or tissues. (ENSAT 7th Ed, 2009)


ENSAT Stage IV Adrenal Cortical Carcinoma

Stage IV includes: Any T, Any N, M1. Tumor of any size that involves distant organs such as liver, bone or brain. The tumor may or may not involve nearby organs, tissues or lymph nodes. (ENSAT 7th Ed, 2009)


Grade 5 Pancreas Leak, CTCAE

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Grade 1 Atrial Tachycardia or Paroxysmal Atrial Tachycardia, CTCAE


Open fracture of carpal bone, unspecified

A traumatic break in one or more of the carpal bones that  involves a break in the adjacent skin.


Closed fracture of carpal bone

A traumatic break in one or more of the carpal bones  that does not involve a break in the adjacent skin.


trichorhinophalangeal syndrome, type III

A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe short stature.


Cyst of nasal cavity

An epithelium-lined cyst in the nasal cavity.


autosomal dominant nonsyndromic hearing loss 65

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene.


Symptomatic COVID-19 Infection Laboratory-Confirmed

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is symptomatic at the time of testing.


severe acute respiratory syndrome

A viral respiratory infection caused by the SARS coronavirus. It is transmitted through close person-to-person contact. It is manifested with high fever, headache, dry cough and myalgias. It may progress to pneumonia and cause death.


Asymptomatic COVID-19 Infection Laboratory-Confirmed

An infection caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and is asymptomatic at the time of testing.


Middle East respiratory syndrome

A viral respiratory infection that is caused by the MERS coronavirus (MERS-CoV), which most often manifests with moderate to severe respiratory symptoms, including productive cough and shortness of breath, which can progress to pneumonia and acute respiratory distress syndrome.


Current Seasonal Coronavirus Infection

Seasonal coronavirus infection is evident at the time of testing.


chromosome Y disorder

Chromosomal disorder in which chromosome Y is affected.


isochromosomy Yq

Isochromosomy Yq is a rare gonosomy anomaly with a variable phenotype including a female phenotype with sexual development delay, streak gonads, short stature and Turner syndrome features and male phenotype with infertility due to azoospermia.


spermatogenic failure, Y-linked, 2

A Y-linked genetic condition caused by mutation(s) in the USP9Y gene, encoding probable ubiquitin carboxyl-terminal hydrolase FAF-Y.  It is associated with male infertility secondary to nonobstructive azoospermia and hypospermatogenesis.


48,XYYY syndrome

48,XYYY syndrome is a rare Y chromosome number anomaly that affects only males and is characterized by mild-moderate developmental delay (especially speech), normal to mild intellectual disability, large, irregular teeth with poor enamel, tall stature and acne. Radioulnar stenosis and clinodactyly have also been associated. Boys generally present normal genitalia, while hypogonadism and infertility is frequently reported in adult males.


partial chromosome Y deletion

Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility.


ring chromosome Y

Ring chromosome Y is a rare chromosome Y structural anomaly, with a highly variable phenotype, mostly characterized by short stature, partial to total gonadal failure, sexual infantilism, genital anomalies (e.g. ambiguous genitalia, hypospadias, cryptorchidism), and azoospermia or oligozoospermia. Additional reported features include speech delay, obesity, and acanthosis nigricans. Gender dysphoria and comorbid bipolar disorder have also been observed.


49,XYYYY syndrome

49,XYYYY is a rare Y chromosome number anomaly with a variable phenotype mainly characterized by moderate to severe intellectual disability, speech delay, hypotonia, and mild dysmorphic features, including facial asymmetry, hypertelorism, bilateral low set 'lop' ears, and micrognatia. Skeletal abnormalities (such as skull deformities, radioulnar synostosis, elbow flexion, clinodactyly, brachydactyly) and behavourial problems have also been associated with this condition. Genitalia are normal at birth, although hypogonadism and azoospermia has been reported in adults.


isochromosomy Yp

Isochromosomy Yp is a rare gonosome anomaly characterized by various clinical presentations including normal healthy fertile males, male phenotype with infertility, and males with ambiguous genitalia or incomplete masculinization.


Pancreatic Well Differentiated Ductal Adenocarcinoma

A pancreatic ductal adenocarcinoma characterized by the presence of duct-like structures and medium-sized malignant glandular structures.


Grade 3 CPK Increased, CTCAE

>5 x ULN-10 x ULN


(R,R)-asenapine

A 5-chloro-2-methyl-2,3,3a,12b-tetrahydrodibenzo[2,3:6,7]oxepino[4,5-c]pyrrole in which both of the stereocentres have R configuration.


Grade 1 Pharynx Mucositis or Stomatitis by Functional or Symptomatic Classification, CTCAE


Grade 4 Trachea Obstruction and Stenosis, CTCAE


Supraventricular Extrasystoles, CTCAE

An adverse event characterized by premature atrial contractions of the heart caused by signals originating from ectopic atrial sites or the atrioventricular node.


Grade 3 Supraventricular Extrasystoles, CTCAE


Grade 4 Supraventricular Extrasystoles, CTCAE


Grade 2 Supraventricular Extrasystoles, CTCAE


Grade 5 Supraventricular Extrasystoles, CTCAE


Grade 1 Supraventricular Extrasystoles, CTCAE


Grade 4 Other Musculoskeletal and Soft Tissue, CTCAE


skin sensitivity to sun

The response of human skin to sun exposure.


photoallergic dermatitis

A delayed hypersensitivity involving the reaction between sunlight or other radiant energy source and a chemical substance to which the individual has been previously exposed and sensitized. It manifests as a papulovesicular, eczematous, or exudative dermatitis occurring chiefly on the light-exposed areas of the skin.


acromelanosis

Acromelanosis is a congenital hyperpigmentation of the skin usually located on the acral areas of the fingers and toes. It is mostly observed in newborns or during the first years of life.


temperature-sensitive oculocutaneous albinism type 1

Type 1 temperature sensitive oculocutaneous albinism (OCA1-TS) is an extremely rare form of OCA1 characterized by the production of temperature sensitive tyrosinase proteins leading to dark hair on the legs, arms and chest (cooler body areas) and white hair on the scalp, axilla and pubic area (warmer body areas).


hyperpigmentation, progressive cribriform and zosteriform


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

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.


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.


minimal pigment oculocutaneous albinism type 1

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

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

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.


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


deaf blind hypopigmentation syndrome, Yemenite type

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


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

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

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

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

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

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


albinism-hearing loss syndrome

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

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


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

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

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


Hermansky-Pudlak syndrome 9

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


Dowling-Degos disease 4

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


oculocutaneous albinism type 7

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

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.


dyschromatosis universalis hereditaria 1


Hermansky-Pudlak syndrome 8

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


Griscelli syndrome

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

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

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


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


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


Hermansky-Pudlak syndrome 10

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


osteopathia striata-pigmentary dermopathy-white forelock syndrome

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

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.


autosomal dominant oculocutaneous albinism

Autosomal dominant form of oculocutaneous albinism.


piebald trait-neurologic defects syndrome

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.


oculocerebral hypopigmentation syndrome, Cross type

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

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


deafness, congenital, with total albinism


dyschromatosis universalis hereditaria 2


syndromic oculocutaneous albinism

A oculocutaneous albinism that is part of a larger syndrome.


hyperpigmentation with or without hypopigmentation, familial progressive


oculocutaneous albinism type 3

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

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

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.


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

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

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.


dyschromatosis universalis hereditaria 3

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


familial progressive hyper- and hypopigmentation

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.


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

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

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

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


Dowling-Degos disease 1

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


linear and whorled nevoid hypermelanosis

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.


microcephaly 9, primary, autosomal recessive

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


Hematopoietic System Finding

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


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

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


Blasts Under 20,000 in Peripheral Blood White Cells

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.


Blasts Under 25 Percent of Bone Marrow Nucleated Cells

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


Myeloblasts 1 Percent or Less of Peripheral Blood White Cells

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


Blasts 20-30 Percent of Bone Marrow Nucleated Cells

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.


Blasts Expressing T-Lymphoid and Myeloid Markers Present

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


Lymphoblasts More Than 50 Percent of Bone Marrow Nucleated Cells

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.


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

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


Blasts 30 Percent or More of Bone Marrow Nucleated Cells

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


Myeloblasts Under 5 Percent of Bone Marrow Nucleated Cells

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.


Blasts More than 10 Percent of Bone Marrow Nucleated Cells

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


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

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


Myeloblasts 5 Percent or More of Peripheral Blood White Cells

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.


Blasts 6-24 Percent of Bone Marrow Nucleated Cells

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.


Myeloblasts 5-9 Percent of Bone Marrow Nucleated Cells

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.


Monoblasts 80 Percent or More of Bone Marrow Monocytic Cells

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


Unilineage Dysplasia Present

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


Megakaryoblasts 50 Percent or More of Bone Marrow Nucleated Cells

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


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

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


Lymphoblasts 25 Percent or Less of Bone Marrow Nucleated Cells

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.


Blasts 20 Percent or More of Bone Marrow Nucleated Cells

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


Blasts 5-9 Percent of Bone Marrow Nucleated Cells

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.


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

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


Blasts Expressing CD56 and Immature T-Cell Markers Present

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


Circulating Tumor Cells Positive

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


Blasts More than 60 Percent of Bone Marrow Nucleated Cells

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

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


Absolute Neutrophil Count Greater than or Equal to 500/mm3

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


Eosinophilia Greater than 1500 cells per Microliter

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


Eosinophilopenia

Abnormally low level of eosinophils in the blood.


Blasts 20 Percent or Less of Bone Marrow Nucleated Cells

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


thrombocytopenia 1

An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.


Lymphoblasts 1 Percent or More of Bone Marrow Nucleated Cells

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.


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

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


Blasts 10-20 Percent of Bone Marrow Nucleated Cells

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.


Blasts Under 30 Percent of Bone Marrow Nucleated Cells

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


Neoplastic Promonocytes in Bone Marrow Markedly Increased

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.


Blasts Under 15 Percent of Peripheral Blood White Cells

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


Immature Granulocytes in Peripheral Blood Under 10 Percent

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


Myeloblasts Under 20 Percent of Peripheral Blood White Cells

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.


Blasts More than 15 Percent of Bone Marrow Nucleated Cells

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


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

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.


Fetal Circulation with Increased Nucleated Erythrocytes

Increased nucleated red blood cells within the fetal circulation.


Blasts 1 Percent or More of Peripheral Blood White Cells

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


Blasts 5 Percent or More of Bone Marrow Nucleated Cells

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


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

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


Ring Sideroblasts Under 15 Percent of Erythroid Precursors

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


Blasts 10-19 Percent of Peripheral Blood White Cells

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.


Immature Myeloid Cells Increased in Bone Marrow

An increased number of myeloid precursors in the bone marrow.


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

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


Myeloblasts Under 1 Percent of Peripheral Blood White Cells

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.


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

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


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

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.


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

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


Myeloblasts Under 10 Percent of Peripheral Blood White Cells

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.


Blasts More than 10000 of Peripheral Blood White Cells

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.


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

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.


Neoplastic Plasma Cells Under 5 Percent of Bone Marrow Nucleated Cells

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


Blasts 10-19 Percent of Bone Marrow Nucleated Cells

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.


Bone Marrow Basophilia

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


Blasts 5 Percent or More of Peripheral Blood White Cells

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

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


Blasts Less than 0.01 Percent of Bone Marrow Nucleated Cells

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.


Blasts 50 Percent or More of Bone Marrow Nucleated Cells

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.


Blasts 9 Percent or Less of Bone Marrow Nucleated Cells

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


Dual Population of Bone Marrow Blasts Present

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


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

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.


Normoblastic Erythroid Hyperplasia

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


Mild to Moderate Anisopoikilocytosis

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


Myeloblasts 10 Percent or More of Bone Marrow Nucleated Cells

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.


Blasts 0.01 Percent or More of Bone Marrow Nucleated Cells

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

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


Blasts Greater than or Equal to 5000 per mL

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


Mast Cells 20 Percent or More of Bone Marrow Nucleated Cells

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


Blasts More Than 5 Percent of Peripheral Blood White Cells

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


Monoblasts 20 Percent or More of Bone Marrow Nucleated Cells

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


Blasts 30 Percent or Less of Peripheral Blood White Cells

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


Blasts Under 20 Percent of Bone Marrow Nucleated Cells

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


leukemoid reaction

A hematology test result that indicates the presence of an increased white blood cell count and increased neutrophil precursors resembling leukemia, in a peripheral blood smear.


Blasts 10 Percent or Less of Bone Marrow Nucleated Cells

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


Myeloblasts Under 2 Percent of Peripheral Blood White Cells

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.


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

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


neonatal thrombocytopenia

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


Myeloblasts Under 10 Percent of Bone Marrow Nucleated Cells

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.


Blasts Under 5 Percent of Bone Marrow Nucleated Cells

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


Blasts Under 5 Percent of Peripheral Blood White Cells

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


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

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.


Hemolysis

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


Immature Granulocytes in Peripheral Blood Increased

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


Blasts 6-25 Percent of Bone Marrow Nucleated Cells

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.


Lymphoblasts 5 Percent or Less of Bone Marrow Nucleated Cells

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.


Blasts 5-20 Percent of Bone Marrow Nucleated Cells

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.


Lymphoblasts 20 Percent or More of Bone Marrow Nucleated Cells

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.


Atypical Lymphocytes Present in Peripheral Blood

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


Blasts 0 Percent of Peripheral Blood White Cells

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


Platelet Count 50000

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


Hypereosinophilia of Undetermined Significance

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


Blasts 5-30 Percent of Bone Marrow Nucleated Cells

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.


gp100:154-162-Reactive Peripheral Blood Lymphocytes Present

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.


HIV-Related Thrombocytopenia

Thrombocytopenia that occurs in patients with acquired immunodeficiency syndrome.


Megakaryocytes Increased in Bone Marrow

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


Neoplastic Plasma Cells Under 10 Percent of Bone Marrow Nucleated Cells

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

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


Blasts 2-4 Percent of Peripheral Blood White Cells

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.


Blasts 5-25 Percent of Bone Marrow Nucleated Cells

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.


Blasts 1 Percent of Peripheral Blood White Cells

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


Bone Marrow Eosinophilia

A finding indicating abnormally high levels of eosinophils in a bone marrow sample.


Lymphoblasts 5-25 Percent of Bone Marrow Nucleated Cells

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.


thrombocytopenia 2

An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.


Myeloblasts 10-19 Percent of Bone Marrow Nucleated Cells

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.


Myeloblasts More than 5 Percent of Bone Marrow Nucleated Cells

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.


Blasts Under 30 Percent of Peripheral Blood White Cells

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


Mast Cells 10 Percent or More of Peripheral Blood White Cells

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


Neoplastic Plasma Cells Present in Bone Marrow

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


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

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


Blasts 21-30 Percent of Bone Marrow Nucleated Cells

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


Lymphoblasts 5 Percent or More of Bone Marrow Nucleated Cells

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.


Myeloblasts 5-19 Percent of Bone Marrow Nucleated Cells

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.


CD5-Positive Blast Cells Greater than 50 Percent

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


Blasts More than 25 Percent of Bone Marrow Nucleated Cells

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


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

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


Blasts 20,000 or Less of Peripheral Blood White Cells

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


Blasts More than 5 Percent of Bone Marrow Nucleated Cells

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


Blasts Under 10 Percent of Bone Marrow Nucleated Cells

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


Blasts Less Than 50 Percent of Bone Marrow Nucleated Cells

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

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


Platelet Count 20000

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


Prolymphocytes Exceed 55 Percent of Lymphoid Cells in the Peripheral Blood

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


Peripheral Blood Basophilia

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


Myeloblasts 5 Percent or More of Bone Marrow Nucleated Cells

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.


Myeloblasts Under 5 Percent of Peripheral Blood White Cells

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.


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

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.


Blasts 15 Percent or Less of Bone Marrow Nucleated Cells

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

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.


Lymphoblasts Less than 5 Percent of Bone Marrow Nucleated Cells

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.


Granulocytes Increased in Bone Marrow

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.


Blasts 2 Percent or More of Peripheral Blood White Cells

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


Abnormal Hematology Test Result

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


Blasts 6 Percent or More of Bone Marrow Nucleated Cells

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


Blasts Under 15 Percent of Bone Marrow Nucleated Cells

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


Blasts 50 Percent or Less of Bone Marrow Nucleated Cells

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


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

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

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


Blasts 20 Percent or Less of Peripheral Blood White Cells

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


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

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.


Neoplastic Plasma Cells Under 5 Percent of Peripheral Blood White Cells

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


Erythroid Precursors 80 Percent or More of Bone Marrow Nucleated Cells

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.


Blasts 5 Percent or Less of Bone Marrow Nucleated Cells

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


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

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.


Atypical Lymphocytes Present in Bone Marrow

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


Neoplastic Plasma Cells Under 50 Percent of Bone Marrow Nucleated Cells

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


Blasts 25 Percent or Less of Bone Marrow Nucleated Cells

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


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

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


Blasts More than 20 Percent of Bone Marrow Nucleated Cells

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


Blasts 60 Percent or More of Bone Marrow Nucleated Cells

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


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

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


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

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.


Neoplastic Promyelocytes in Bone Marrow Markedly Increased


Myeloblasts 1 Percent of Peripheral Blood White Cells

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


Hemoglobinuria due to hemolysis from external causes

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


Neoplastic Plasma Cells Under 20 Percent of Bone Marrow Nucleated Cells

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

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

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

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


Blasts Expressing B-Lymphoid and T-Lymphoid Markers Present

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


Chemotherapy Related Agranulocytosis

Agranulocytosis that occurs with chemotherapy.


Drug Induced Thrombocytopenia

Thrombocytopenia caused by ingested or injected drugs. It may be the result of decreased platelet production due to bone marrow suppression or increased rate of platelet destruction.


Blasts 0.1 Percent or More of Bone Marrow Nucleated Cells

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.


Blasts Expressing B-Lymphoid and Myeloid Markers Present

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


Peripheral Blood Eosinophilia

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


Blasts of Mixed Phenotype Present

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


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

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.


Blasts 25 Percent or More of Bone Marrow Nucleated Cells

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


Myeloblasts Under 20 Percent of Bone Marrow Nucleated Cells

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.


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

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

Abnormally low level of basophils in the blood.


Pancytopenia caused by medication

Pancytopenia caused by exposure to certain drugs.


Blasts 5-19 Percent of Bone Marrow Nucleated Cells

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

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


Myeloblasts 20 Percent or More of Bone Marrow Nucleated Cells

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.


Homozygous Hemoglobin C or E, Non-Disease

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.


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

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

A laboratory test result indicating abnormal bone marrow cells.


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

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.


Erythroid Precursors 50 Percent or More of Bone Marrow Nucleated Cells

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.


Ring Sideroblasts 15 Percent or More of Erythroid Precursors

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


Blasts 30,000 or Less of Peripheral Blood White Cells

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


Myeloblasts 5 Percent or Less of Bone Marrow Nucleated Cells

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.


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

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


Lymphoma Cells More than 25 Percent of Bone Marrow Nucleated Cells

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


Blasts 11-20 Percent of Bone Marrow Nucleated Cells

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.


Blasts Under 20 Percent of Peripheral Blood White Cells

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


Bone Marrow Blasts Percentage Decreased by 5 to 25 Percent

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.


Blasts 5 Percent or Less of Peripheral Blood White Cells

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


Blasts 30 Percent or Less of Bone Marrow Nucleated Cells

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

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


Hypercellular Bone Marrow

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.


Myeloblasts Present

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


BCR-JAK2 Fusion in Hematologic Malignancies

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.


Neoplastic Plasma Cells 10 Percent of Bone Marrow Nucleated Cells

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


Blasts 5-19 Percent of Peripheral Blood White Cells

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


Low Natural Killer Cell Activity

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.


Blasts 5-10 Percent of Bone Marrow Nucleated Cells

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.


Lymphoblasts 5 Percent or More of Peripheral Blood White Cells

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.


Blasts 10 Percent or More of Bone Marrow Nucleated Cells

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


Blasts 2 Percent or More of Bone Marrow Nucleated Cells

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


Blasts 1 Percent or More of Bone Marrow Nucleated Cells

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


Blasts Increased by Greater than or Equal to 50 Percent

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.


Blasts Under 10 Percent of Peripheral Blood White Cells

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


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

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


Blasts 6-19 Percent of Bone Marrow Nucleated Cells

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

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 dysregulation

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

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


age related macular degeneration 4

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


age related macular degeneration 13

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.


Mixed phenotype acute leukemia T/myeloid

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


Grade 5 Hepatic Necrosis, CTCAE

Death


Prostate Acinar Adenocarcinoma, Atrophic Variant

An unusual variant of acinar prostate adenocarcinoma characterized by the presence of neoplastic small atrophic glands that contain malignant cells with scant cytoplasm.


ceroid lipofuscinosis, neuronal, 6A

A rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 18 months and 8 years, although later onset cases have been reported. Affected people may experience loss of muscle coordination (ataxia), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental regression (loss of previously acquired skills). It occurs predominantly in people of Portuguese, Indian, Pakistani, or Czech ancestry. CLN6-NCL is caused by changes (mutations) in the CLN6 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.


Grade 1 Telangiectasia, CTCAE

Telangiectasias covering <10% BSA


multiple epiphyseal dysplasia, with severe proximal femoral dysplasia

Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia is a rare primary bone dysplasia characterized by severe, early-onset dysplasia of the proximal femurs, with almost complete absence of the secondary ossification centers and abnormal development of the femoral necks (short and broad with irregular metaphyses). It is associated with gait abnormality, mild short stature, arthralgia, joint stiffness with limited mobility of the hips and irregular acetabula, and hip and knee pain. Coxa vara and mild spinal changes are also associated.


Prostate cancer stage C

Tumor is clinically localized to the periprostatic area, but extends through the prostatic capsule; the seminal vesicles may be involved.


non-severe combined immunodeficiency due to polymerase delta deficiency

Any non-severe combined immunodeficiency in which the cause of the disease is variation in the POLD1/POLD2 gene.


ear neoplasm

A neoplasm (disease) that involves the ear.


perichondritis of auricle

An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it.


congenital corneal opacities, cornea guttata, and corectopia


tympanic membrane disorder

A disease involving the tympanic membrane.


chronic eustachian salpingitis

Chronic form of otosalpingitis.


acute perichondritis of pinna

Acute form of perichondritis of auricle.


acute infection of pinna

An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species.


benign neoplasm of middle ear

A benign neoplasm that involves the middle ear.


autoimmune inner ear disease

A syndrome characterized by rapidly progressive sensorineural hearing loss (SNHL), that is often bilateral, and is potentially reversible.


space motion sickness

Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)


external ear disorder

A disease involving the external ear.


external ear neoplasm

A neoplasm (disease) that involves the external ear.


cholesteatoma of external ear

A cholesteatoma (disease) that involves the external ear.


acute eustachian salpingitis

Acute form of otosalpingitis.


chronic fungal otitis externa

Chronic form of otomycosis.


tympanitis

An inflammatory disease involving a pathogenic inflammatory response in the tympanic membrane.


otomycosis

Fungus infection of the external ear, usually by aspergillus species


external ear lipoma

A benign adipose tissue neoplasm of the external ear.


chronic tympanitis

Chronic form of tympanitis.


middle ear disorder

A disease involving the middle ear.


acute allergic mucoid otitis media

A blue drum syndrome caused by an allergen.


benign neoplasm of ear

A benign neoplasm that involves the ear.


active cochleovestibular Meniere disease


acute sanguinous otitis media

A acute transudative otitis media which involves bloody effusion.


middle ear cancer

A malignant neoplasm involving the middle ear


middle ear neuroendocrine tumor

A neuroendocrine neoplasm that involves the middle ear.


inner ear cancer

A malignant neoplasm involving the internal ear.


benign paroxysmal positional vertigo

Idiopathic recurrent vertigo associated with positional nystagmus. It is associated with a vestibular loss without other neurological or auditory signs. Unlike in labyrinthitis and vestibular neuronitis inflammation in the ear is not observed.


suppurative otitis media

Inflammation of the middle ear with purulent discharge.


chronic perichondritis of pinna

Chronic form of perichondritis of auricle.


chronic non-suppurative otitis media

Chronic form of non-suppurative otitis media.


internal auditory canal lipoma

A rare benign adipose tissue neoplasm of the internal auditory canal, often presenting as an acoustic tumor. It may be intermixed with the vestibulocochlear nerve and may adhere to adjacent structures.


non-suppurative otitis media

A otitis media which involves transudation of fluid in the middle ear without pus formation.


internal auditory canal meningioma

A meningioma that affects the internal auditory canal.


patulous eustachian tube

A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection.


acute serous otitis media

A acute transudative otitis media with thin, watery and sterile effusion.


acute transudative otitis media

Acute form of non-suppurative otitis media.


acute allergic sanguinous otitis media

A acute sanguinous otitis media caused by an allergen.


external ear cancer

A malignant neoplasm involving the external ear.


serous glue ear

Chronic form of serous otitis media.


otosalpingitis

An inflammatory disease involving a pathogenic inflammatory response in the pharyngotympanic tube.


X-linked mixed hearing loss with perilymphatic gusher

X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.


cholesteatoma of attic

A cholesteatoma in the attic


cholesteatoma of middle ear

A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear.


purulent acute otitis media

Acute form of suppurative otitis media.


blue drum syndrome

A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color.


cochlear disorder

Pathological processes of the snail-like structure (cochlea) of the inner ear (labyrinth) which can involve its nervous tissue, blood vessels, or fluid (endolymph).


malignant otitis externa

An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes.


allergic otitis media

A otitis media (disease) with a basis in a pathological type I hypersensitivity reaction.


acute allergic serous otitis media

A acute serous otitis media caused by an allergen.


endolymphatic hydrops

An accumulation of endolymph in the inner ear (labyrinth) leading to buildup of pressure and distortion of intralabyrinthine structures, such as cochlea and semicircular canals. It is characterized by sensorineural hearing loss; tinnitus; and sometimes vertigo.


chronic atticoantral disease

A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection.


phacogenic glaucoma

Secondary glaucoma caused by either excessive size or spheric shape of the lens.


phacolytic glaucoma

An abnormal condition characterized by an acute autoimmune reaction of the eye. It is caused by hypersensitivity of the eye to the protein of the crystalline lens and commonly follows trauma to the crystalline lens or cataract surgery. Associated symptoms include swelling and inflammation of the eye, severe pain, and blurred vision. The substance of the lens is invaded by polymorphonuclear cells and mononuclear phagocytes. Accurate diagnosis must differentiate between this condition and infectious endophthalmitis. Therapy is supportive and commonly includes the administration of corticosteroids and atropine. Refractory cases may require surgical removal of the lens.


Grade 5 Vaginal Stricture, CTCAE

Death


Vaginal Stricture, CTCAE

A disorder characterized by a narrowing of the vaginal canal.


Grade 2 Vaginal Stricture, CTCAE

Vaginal narrowing and/or shortening not interfering with physical examination


Grade 1 Vaginal Stricture, CTCAE

Asymptomatic; mild vaginal shortening or narrowing


Grade 3 Vaginal Stricture, CTCAE

Vaginal narrowing and/or shortening interfering with the use of tampons, sexual activity or physical examination


Colorectal Traditional Serrated Adenoma

An adenoma that arises from the colon or rectum.  It is characterized by prominent serration of the glands.


Colon Traditional Serrated Adenoma

An adenoma that arises from the colon.  It is characterized by prominent serration of the glands.


Colorectal Filiform Serrated Adenoma

A traditional serrated adenoma that arises from the colon or rectum.  It is characterized by the presence of prominent villous projections of the neoplastic epithelium.


hyperuricemic nephropathy, familial juvenile type 4

Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene.


myofibrillar myopathy 3

A rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years.


Penile Glomus Tumor

A glomus tumor that occurs in the penis.


Bone Glomus Tumor

A benign or malignant glomus tumor arising from the bone.


Glomus Tumor of Uncertain Malignant Potential

A glomus tumor that shows atypical characteristics and has borderline malignant potential.


Solid Glomus Tumor

The most common morphologic variant of glomus tumor.  It is characterized by the presence of a nest of glomus cells surrounding capillary sized vessels.


Benign Glomus Tumor

A glomus tumor of small size characterized by the absence of nuclear atypia and mitotic activity.


Gastric Glomus Tumor

A rare glomus tumor that arises from the stomach.  It is seen in adults, especially women.  The majority of cases follow a benign clinical course.


glomuvenous malformation

Glomuvenous malformations (GVMs) are hereditary vascular malformations characterized by the presence of small, multifocal bluish-purple venous lesions involving the skin.


peroxisome biogenesis disorder type 3B

A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation.


Grade 1 Dysmenorrhea, CTCAE

Mild symptoms; intervention not indicated


Stage IVA Ovarian Cancer AJCC v8

Stage IVA includes: Any T, Any N, M1a. M1a: Ovarian cancer with pleural effusion with positive cytology. (from AJCC 8th Ed.)


Stage IV Ovarian Cancer AJCC v8

Stage IV includes: Any T, Any N, M1: M1: Distant metastasis, including pleural effusion with positive cytology; liver or splenic parenchymal metastasis; metastasis to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); and transmural involvement of intestine. (from AJCC 8th Ed.)


Stage IVB Ovarian Cancer AJCC v8

Stage IVB includes: Any T, Any N, M1b. M1b: Ovarian cancer with liver or splenic parenchymal metastases; metastases to extra-abdominal organs (including inguinal lymph nodes and lymph nodes outside the abdominal cavity); transmural involvement of intestine. (from AJCC 8th Ed.)


Modified smallpox

Smallpox that occurs in an individual who has been vaccinated.


Testicular Germ Cell Neoplasia In Situ with Extratubular Extension

A malignant neoplasm that arises from the testis and is characterized by the presence of large germ cells with abundant cytoplasm in the seminiferous tubules, associated with an invasive germ cell tumor in the adjacent tissues.


Grade 1 Stoma Site Infection, CTCAE

Localized, local intervention indicated


trisomy 9p

Trisomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial or complete trisomy of the short arm of chromosome 9, with a wide phenotypic variablility, typically characterized by intellectual disability, craniofacial dysmorphism (e.g. microcephaly, large anterior fontanel, hypertelorism, strabismus, downslanting palpebral fissures, malformed, low-set, protruding ears, bulbous nose, macrostomia, down-turned corners of mouth, micrognathia), digital anomalies (brachydactyly and clinodactyly), and short stature. Less frequently patients present with cardiopathy and renal, skeletal, and central nervous system malformations.


N-Acetyl-D-hexosamine

Any N-acetylhexosamine in which the hexosamine has D-configuration. The structure provided is an illustrative example of the pyranose form of an N-acetyl-D-hexosamine.


N-Acetyl-D-Glucosamine

The D isomer of N-acetylglucosamine.


Advanced Rectal Squamous Cell Carcinoma

Rectal squamous cell carcinoma that has spread extensively to other anatomic sites or is no longer responding to treatment.


Metastatic Rectal Squamous Cell Carcinoma

Rectal squamous cell carcinoma that has spread from the original site of growth to other anatomic sites.


Locally Advanced Rectal Squamous Cell Carcinoma

Rectal squamous cell carcinoma that has spread to nearby tissues or lymph nodes.


Hormonal Change

A finding indicating a deficiency or excess of one or more hormones.


Growth Hormone Secretion Abnormality

An abnormal production of growth hormone.


Grade 3 Sinusoidal Obstruction Syndrome, CTCAE

Blood bilirubin >5 mg/dL; coagulation modifier indicated (e.g., defibrotide); reversal of flow on ultrasound


Grade 1 Neonatal Pulmonary Hemorrhage, AE

An adverse event in a newborn characterized by limited hemorrhagic secretion in an endotracheal (ET) tube.


Grade 3 Erythema Multiforme, CTCAE

Target lesions covering >30% BSA and associated with oral or genital erosions


Grade 4 Hyperkalemia, CTCAE

>7.0 mmol/L; life-threatening consequences


Early menarche

Occurrence of the first menstrual period in a female before the usual or expected age.


Isolated Premature Menarche

Occurrence of the first menstrual period in a girl before the lower limit of the normal age range for the reference population, without other signs of puberty.


campomelic dysplasia

Campomelic dysplasia is a very rare disorder characterized by a variable association of skeletal abnormalities (bowed and fragile long bones, pelvis and chest abnormalities, eleven rib pairs instead of the usual twelve), and extraskeletal abnormalities (facial dysmorphology, cleft palate, sexual ambiguity or sex reversal in two thirds of the affected boys, and brain, heart and kidney malformations).


Grade 1 Lung Thoracic Nerve Intra-Operative Injury, CTCAE


Grade 2 Jejunum Stricture or Stenosis, CTCAE


Grade 5 Jejunum Stricture or Stenosis, CTCAE


Grade 3 Jejunum Stricture or Stenosis, CTCAE


Grade 1 Jejunum Stricture or Stenosis, CTCAE


Grade 4 Jejunum Stricture or Stenosis, CTCAE


qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan


qualitative or quantitative defects of alpha-dystroglycan


autosomal recessive limb-girdle muscular dystrophy type 2U

Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene.


qualitative or quantitative defects of FKRP


qualitative or quantitative defects of protein O-mannosyltransferase 2


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7

Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.


myopathy caused by variation in POMT2

Any myopathy in which the cause of the disease is a variation in the POMT2 gene.


limb-girdle muscular dystrophy due to POMK deficiency

Limb-girdle muscular dystrophy due to POMK deficiency is a form of limb-girdle muscular dystrophy presenting in infancy with muscle weakness and delayed motor development (eventually learning to walk at 18 months of age) followed by progressive proximal weakness, pseudohypertrophy of calf muscles, mild facial weakness, and borderline intelligence.


myopathy caused by variation in POMT1

Any myopathy in which the cause of the disease is a variation in the POMT1 gene.


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


qualitative or quantitative defects of protein O-mannosyltransferase 1


autosomal recessive limb-girdle muscular dystrophy type 2K

Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.


autosomal recessive limb-girdle muscular dystrophy type 2I

Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.


autosomal recessive limb-girdle muscular dystrophy type 2N

Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability.


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2

An autosomal recessive inherited congenital muscular dystrophy caused by mutations in the POMT2 gene. It is characterized by mental retardation and mild structural brain abnormalities resulting from defective glycosylation of alpha-dystroglycan.


muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1


Broad Ligament Papillary Cystadenoma

A cystadenoma that arises from the broad ligament. It is characterized by the presence of small papillary projections in the inner surface of the cysts. It may be sporadic or associated with von Hippel-Lindau disease.


bile acid taurine conjugate

A bile acid conjugate resulting from the formal condensation of a bile acid with the amino group of taurine.


5beta-cholanic acids

Members of the class of cholanic acids based on a 5beta-cholane skeleton.


hydroxy-5beta-cholanic acid

Any member of the class of 5beta-cholanic acids carrying at least one hydroxy group at unspecified position.


bile acid conjugate

Any bile acid conjugated to a functional group that gives additional hydrophilicity or charge to the molecule. Molecules used for conjugation are: glycine, taurine (and other amino acids); sulfuric acid (for which the term ''sulfate'' may be used); glucuronic acid (for which the term ''glucuronate'' may be used); glucose and other uncharged sugars; and coenzyme A.


dihydroxy-5beta-cholanic acid

A hydroxy-5beta-cholanic acid carrying two hydroxy groups at unspecified positions.


bile acid

Any member of a group of hydroxy-5beta-cholanic acids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration.


bile acids

Any member of a group of hydroxy steroids occuring in bile, where they are present as the sodium salts of their amides with glycine or taurine. In mammals bile acids almost invariably have 5beta-configuration, while in lower vertebrates, some bile acids, known as allo-bile acids, have 5alpha-configuration.


dihydroxycholanic acid

Any member of the class of cholanic acids carrying two hydroxy substituents at unspecified positions.


Grade 5 Fibrosis-Deep Connective Tissue, CTCAE


Cervical Warty Carcinoma

A human papillomavirus-related cervical squamous cell carcinoma characterized by the presence of a warty surface and koilocytotic atypia.


Grade 1 Rectal Mucositis, CTCAE

Asymptomatic or mild symptoms; intervention not indicated


pseudohypoaldosteronism type 2D

Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene.


Craniomandibular Disorders

A disorder that affects the muscles of head and neck and temporomandibular joint.


osteofibrous dysplasia

A benign, usually self-limited fibro-osseous lesion of the bone that affects infants and children. It usually arises from the cortical bone of the anterior mid-shaft of the tibia. Patients usually present with swelling or painless bowing of the tibia. Progression to adamantinoma has been reported in some cases.


Grade 3 Anus Stricture or Stenosis, CTCAE


Stage IIIC Ovarian Cancer

Stage IIIC includes: (T3c, N0, M0); (Any T, N1, M0). T3c: Peritoneal metastasis beyond pelvis more than 2cm in greatest dimension and/or regional lymph node metastasis. N0: No regional lymph node metastasis.  N1: Regional lymph node metastasis.  M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIIB Ovarian Germ Cell Tumor AJCC v6 and v7

Stage IIIB includes: T3b, N0, M0. T3b: Macroscopic peritoneal metastasis beyond pelvis 2 cm or less in greatest dimension. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th and 7th eds.)


Stage IIB Ovarian Cancer AJCC v8

Stage IIB includes: T2b, N0, M0. T2b: Ovarian cancer with tumor extension to and/or implants on other pelvic tissues. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 8th Ed.)