rufous oculocutaneous albinism

Preferred Label : rufous oculocutaneous albinism;

MeSH note : OCA3 not included;

MeSH synonym : xanthism; rufous OCA; oculocutaneous albinism, type III; albinism, oculocutaneous, type III; albinism III; Albinism, oculocutaneous, type 3; Albinism 3; Oculocutaneous albinism type 3;

Details

Origin ID

C537189;

UMLS CUI

C0342683;

Currated CISMeF NLP mapping
- Albinism, oculocutaneous, type III [OMIM Phenotype]
- Oculocutaneous albinism type 3 [ICD-11 More detail]
- Oculocutaneous albinism type 3 [ORDO Disease]
- Rufous albinism (disorder) [SNOMED CT concept]
- oculocutaneous albinism type III [DO Concept]
- oculocutaneous albinism type III [Disease (Nov.)]
- rufous albinism [SNOMED Notion]
MeSH term(s) associated for indexing
- albinism, oculocutaneous [MeSH Descriptor]
ORDO relation(s)
- Oculocutaneous albinism type 3 [ORDO Disease]
Record concept(s)
- Rufous oculocutaneous albinism [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism, oculocutaneous, type III [OMIM Phenotype]
- Rufous albinism (disorder) [SNOMED CT concept]
- rufous albinism [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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