Albinism - CISMeF

Preferred Label : Albinism;

NCIt definition : A congenital disorder characterized by partial or complete absence of melanin pigment in the eyes, hair and skin.;

Alternative definition : NCI-GLOSS: A group of genetic conditions marked by little or none of the pigment melanin in the skin, hair, and/or eyes. People with albinism may have vision problems and white or yellow hair; reddish, violet, blue or brown eyes; and pale skin.;

Codes from synonyms : CDR0000442860;

Details

Origin ID

C84543;

UMLS CUI

C0001916;

Automatic exact mappings (from CISMeF team)
- Albinism, oculocutaneous, type ia [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Albinism [ICD-10 Sub-category]
- Albinism [HPO term]
- Albinism [PASCAL descriptor]
- Albinism [ICD-10 Sub-category (who)]
- Albinism [MedDRA Preferred Term]
- Albinism (disorder) [SNOMED CT concept]
- albinism [Disease (Nov.)]
- albinism [MeSH Descriptor]
- albinism [MeSH concept]
- albinism, nos [SNOMED Notion]
Validated automatic mappings to BTNT
- Albinism, oculocutaneous, type III [OMIM Phenotype]
- Ocular albinism [ICD-11 More detail]
- ocular albinism [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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