oculocutaneous albinism type 1B

Preferred Label : oculocutaneous albinism type 1B;

MeSH synonym : yellow albinism; albinism, yellow mutant type; albinism, oculocutaneous, type ib; oculocutaneous albinism, type ib;

Details

Origin ID

C537729;

UMLS CUI

C1847024;

Automatic exact mappings (from CISMeF team)
- Yellow mutant oculocutaneous albinism (disorder) [SNOMED CT concept]
- yellow mutant oculocutaneous albinism [SNOMED Notion]
Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type ib [OMIM Phenotype]
- Oculocutaneous albinism type 1B [ICD-11 More detail]
- Oculocutaneous albinism type 1B [ORDO Disease]
- Temperature-sensitive oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type IB [DO Concept]
- oculocutaneous albinism type IB [Disease (Nov.)]
MeSH term(s) associated for indexing
- albinism, oculocutaneous [MeSH Descriptor]
ORDO relation(s)
- Oculocutaneous albinism type 1B [ORDO Disease]
Record concept(s)
- Oculocutaneous albinism type 1B [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, oculocutaneous, type ib [OMIM Phenotype]
- Oculocutaneous albinism type 1B [ORDO Disease]
- Oculocutaneous albinism type 1B [ICD-11 More detail]
- Yellow mutant oculocutaneous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type IB [DO Concept]
- oculocutaneous albinism type IB [Disease (Nov.)]
Validated automatic mappings to BTNT
- Yellow oculocutaneous albinism [ICD-11 More detail]

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