albinism, oculocutaneous

Preferred Label : albinism, oculocutaneous;

MeSH definition : Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.;

MeSH synonym : oculocutaneous albinism;

Wikipedia automatic translation : AOC;

MeSH hyponym : albinism, Tyrosinase-Negative; albinism, Tyrosinase-Positive; Albinism, Tyrosinase Negative; Tyrosinase-Negative Albinism; Albinism, Tyrosinase Positive; Tyrosinase-Positive Albinism; Albinism, Yellow Mutant; Yellow-Mutant Albinism; Yellow Mutant Albinism; Mutant Albinism, Yellow; Mutant Albinisms, Yellow;

Wikipedia link : https://en.wikipedia.org/wiki/AOC;

Details

Origin ID

D016115;

UMLS CUI

C0078918;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Albinism [ICD-10 Sub-category]
- Albinism [ICD-10 Sub-category (who)]
- Albinism, oculocutaneous, type II [OMIM Phenotype]
- Oculocutaneous albinism type 1B [ORDO Disease]
- Oculocutaneous albinism type 2 [ORDO Disease]
- Tyrosinase-positive oculocutaneous albinism [ICD-11 More detail]
- Tyrosinase-positive oculocutaneous albinism (disorder) [SNOMED CT concept]
- Yellow mutant oculocutaneous albinism (disorder) [SNOMED CT concept]
- Yellow oculocutaneous albinism [ICD-11 More detail]
- tyrosinase-positive oculocutaneous albinism [SNOMED Notion]
- yellow mutant oculocutaneous albinism [SNOMED Notion]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
- Oculocutaneous Albinism [NCIt concept]
- Oculocutaneous albinism [PASCAL descriptor]
- Oculocutaneous albinism [ICD-11 Sub-sub category]
- Oculocutaneous albinism [OMIM phenotypic series]
- Oculocutaneous albinism [ORDO Disease]
- Oculocutaneous albinism (disorder) [SNOMED CT concept]
- Oculocutaneous albinism type 1 [ORDO Disease]
- Oculocutaneous albinism type 1A [ICD-11 More detail]
- Oculocutaneous albinism type 1A [ORDO Disease]
- albinismus totalis [Disease (Nov.)]
- oculocutaneous albinism [DO Concept]
- oculocutaneous albinism, nos [SNOMED Notion]
- tyrosinase-negative oculocutaneous albinism [SNOMED Notion]
DO Cross reference
- oculocutaneous albinism [DO Concept]
Indexing information
- TYRP1 protein, human [MeSH Supplementary Concept]
Localisation(s) d'après SNOMED CT
- eye [MeSH Descriptor]
Manual BTNT mappings - CISMeF
- Hermansky-Pudlak syndrome due to AP-3 deficiency [ORDO Disease]
- Oculocutaneous albinism type 3 [ORDO Disease]
- Oculocutaneous albinism type 4 [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic hypopigmentation of the skin [ORDO Disease]
- Hypopigmentation of the skin [ORDO Disease]
- Oculocutaneous or ocular albinism [ORDO Disease]
- Unclassified primitive or secondary maculopathy [ORDO Disease]
ORDO relation(s)
- Oculocutaneous albinism [ORDO Disease]
Record concept(s)
- albinism, Tyrosinase-Negative [MeSH concept]
- albinism, Tyrosinase-Positive [MeSH concept]
- albinism, Yellow-Mutant [MeSH concept]
- albinism, oculocutaneous [MeSH concept]
Related MeSH Supplementary Concept(s)
- albinism, oculocutaneous, type I, Temperature-Sensitive [MeSH Supplementary Concept]
- brown oculocutaneous albinism [MeSH Supplementary Concept]
- deafness, congenital, with total albinism [MeSH Supplementary Concept]
- dilution, pigmentary [MeSH Supplementary Concept]
- oculocutaneous albinism type 1 [MeSH Supplementary Concept]
- oculocutaneous albinism type 1B [MeSH Supplementary Concept]
- oculocutaneous albinism type 2 [MeSH Supplementary Concept]
- oculocutaneous albinism, type IV [MeSH Supplementary Concept]
- rufous oculocutaneous albinism [MeSH Supplementary Concept]
- tietz syndrome [MeSH Supplementary Concept]
SNOMED CT : localisation
- skin [MeSH Descriptor]
See also (suggested by CISMeF)
- albinism, ocular [MeSH Descriptor]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocutaneous Albinism [NCIt concept]
- Oculocutaneous albinism [ORDO Disease]
- Oculocutaneous albinism [PASCAL descriptor]
- Oculocutaneous albinism (disorder) [SNOMED CT concept]
- albinismus totalis [Disease (Nov.)]
- oculocutaneous albinism [DO Concept]
- oculocutaneous albinism, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Oculocutaneous albinism type 1 (disorder) [SNOMED CT concept]
- Tyrosinase-negative oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type I [Disease (Nov.)]
- oculocutaneous albinism type IA [DO Concept]
- oculocutaneous albinism type II [Disease (Nov.)]

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