multiple pterygium syndrome, X-Linked

Preferred Label : multiple pterygium syndrome, X-Linked;

MeSH synonym : pterygium syndrome, multiple, X-Linked;

Origin ID

C564072;

UMLS CUI

C1839440;

Automatic exact mappings (from CISMeF team)
- Multiple pterygium syndrome, X-linked [ICD-11 More detail]
CISMeF manual mappings
- X-linked lethal multiple pterygium syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Multiple pterygium syndrome, X-linked [OMIM Phenotype]
- X-linked lethal multiple pterygium syndrome (disorder) [SNOMED CT concept]
MeSH term(s) associated for indexing
- contracture [MeSH Descriptor]
- facies [MeSH Descriptor]
- genetic diseases, X-linked [MeSH Descriptor]
- limb deformities, congenital [MeSH Descriptor]
Record concept(s)
- multiple pterygium syndrome, X-Linked [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Multiple pterygium syndrome, X-linked [OMIM Phenotype]
- X-linked lethal multiple pterygium syndrome [ORDO Disease]