multiple pterygium syndrome, autosomal dominant

Preferred Label : multiple pterygium syndrome, autosomal dominant;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0567039;

UMLS CUI

C1867440;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant multiple pterygium syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- 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]
Related record
- multiple pterygium syndrome, autosomal dominant [MeSH Supplementary 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]