Uniparental Disomy

Preferred Label : Uniparental Disomy;

NCIt definition : A condition characterized by the inheritance of a chromosome pair from one parent and no chromosomal copies from the other parent. It results in developmental abnormalities or rare recessive disorders. Examples of uniparental disomy include the Prader-Willi syndrome and Angelman syndrome.;

Details

Origin ID

C85215;

UMLS CUI

C0949628;

Automatic exact mappings (from CISMeF team)
- Uniparental disomy [HPO term]
Currated CISMeF NLP mapping
- Autosomal uniparental disomy [ORDO Disease]
- Uniparental disomies [ICD-11 Category]
- Uniparental disomy [PASCAL descriptor]
- Uniparental disomy (disorder) [SNOMED CT concept]
- uniparental disomy [MeSH Descriptor]
- uniparental disomy [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal uniparental disomy [ORDO Disease]
- Uniparental disomies [ICD-11 Category]
- Uniparental disomy [PASCAL descriptor]
- Uniparental disomy [HPO term]
- Uniparental disomy (disorder) [SNOMED CT concept]
- uniparental disomy [MeSH Descriptor]
- uniparental disomy [MeSH concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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