Lethal Multiple Pterygium Syndrome

Preferred Label : Lethal Multiple Pterygium Syndrome;

NCIt definition : A rare variant of multiple pterygium syndrome, characterized by severe athrogryposis, pterygium, akinesia and often hydrops fetalis and cystic hygroma. This variant is fatal, usually during the second or third trimester of pregnancy.;

Détails

Origin ID

C101038;

UMLS CUI

C1854678;

Automatic exact mappings (from CISMeF team)
- multiple pterygium syndrome [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Lethal multiple pterygium syndrome [ORDO Disease]
- Lethal multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome lethal type [MeSH concept]
- Multiple pterygium syndrome, lethal type [OMIM Phenotype]
- lethal multiple pterygium syndrome [SNOMED Notion]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lethal multiple pterygium syndrome [ORDO Disease]
- Lethal multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome lethal type [MeSH concept]
- Multiple pterygium syndrome, lethal type [OMIM Phenotype]
- lethal multiple pterygium syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- multiple pterygium syndrome [MeSH Supplementary Concept]
disease_has_finding
- Congenital Lesion [NCIt concept]
disease_mapped_to_gene
- CHRNA1 Gene [NCIt concept]
- CHRND Gene [NCIt concept]
- CHRNG Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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