Uniparental disomies

ICD-11 code : LD45;

Preferred Label : Uniparental disomies;

ICD-11 definition : Any disease caused by the inheritance of two homologous copies of a chromosome from one parent, and none from the other parent. Confirmation is by observation of identical chromosomes pairs by genetic testing.;

ICD-11 "other" category code : LD45.Y;

ICD-11 "unspecified" category code : LD45.Z;

Details

Origin ID

694223526;

UMLS CUI

C0949628;

Automatic exact mappings (from CISMeF team)
- Uniparental disomy [HPO term]
Currated CISMeF NLP mapping
- Autosomal uniparental disomy [ORDO Disease]
- Uniparental Disomy [NCIt concept]
- 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 Disomy [NCIt concept]
- Uniparental disomy [PASCAL descriptor]
- Uniparental disomy [HPO term]
- Uniparental disomy (disorder) [SNOMED CT concept]
- uniparental disomy [MeSH Descriptor]
- uniparental disomy [MeSH concept]

Keyword's position in hierarchy(ies) :

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