chondrodysplasia punctata, autosomal dominant

Preferred Label : chondrodysplasia punctata, autosomal dominant;

CISMeF hyponym : chondrodysplasia punctata due to vitamin K deficiency; chondrodysplasia punctata due to warfarin teratogenicity; chondrodysplasie ponctuée due à un déficit en vitamine K;

Details

Origin ID

C563248;

UMLS CUI

C1442935;

CISMeF manual mappings
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
Currated CISMeF NLP mapping
- Chondrodysplasia punctata, Sheffield type [ICD-11 More detail]
- Chondrodysplasia punctata, autosomal dominant [OMIM Phenotype]
- autosomal dominant chondrodysplasia punctata [DO Concept]
MeSH term(s) associated for indexing
- chondrodysplasia punctata [MeSH Descriptor]
Record concept(s)
- chondrodysplasia punctata due to vitamin K deficiency [MeSH concept]
- chondrodysplasia punctata due to warfarin teratogenicity [MeSH concept]
- chondrodysplasia punctata, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chondrodysplasia punctata, Sheffield type [ORDO Disease]
- Chondrodysplasia punctata, Sheffield type [ICD-11 More detail]
- Chondrodysplasia punctata, autosomal dominant [OMIM Phenotype]
- autosomal dominant chondrodysplasia punctata [DO Concept]

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