uniparental disomy of 11

Preferred Label : uniparental disomy of 11;

MeSH synonym : paternal uniparental disomy for chromosome 11(type); uniparental disomy of chromosome 11;

Is substance : O;

Détails

Origin ID

C536468;

UMLS CUI

C1507333;

Automatic exact mappings (from CISMeF team)
- Chromosome 11 uniparental disomy [LOINC component]
CISMeF manual mappings
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 [ORDO Disease]
Currated CISMeF NLP mapping
- Uniparental disomy of chromosome 11 [ORDO Disease]
MeSH term(s) associated for indexing
- chromosomes, human, pair 11 [MeSH Descriptor]
- uniparental disomy [MeSH Descriptor]
Record concept(s)
- Uniparental disomy of 11 [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 [ORDO Disease]
- Chromosome 11 uniparental disomy [LOINC component]
- Uniparental disomy of chromosome 11 [ORDO Disease]

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