multiple pterygium syndrome, autosomal dominant

Preferred Label : multiple pterygium syndrome, autosomal dominant;

MeSH synonym : arthrogryposis, distal, type 8; pterygium syndrome, multiple, autosomal dominant;

Details

Origin ID

C566739;

UMLS CUI

C1867440;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant multiple pterygium syndrome [ICD-11 More detail]
CISMeF manual mappings
- Autosomal dominant multiple pterygium syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Autosomal dominant multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a [OMIM Phenotype]
MeSH term(s) associated for indexing
- arthrogryposis [MeSH Descriptor]
Record concept(s)
- multiple pterygium syndrome, autosomal dominant [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant multiple pterygium syndrome [ORDO Disease]
- Autosomal dominant multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a [OMIM Phenotype]

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