Autosomal Dominant Popliteal Pterygium Syndrome

Preferred Label : Autosomal Dominant Popliteal Pterygium Syndrome;

NCIt definition : A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.;

Details

Origin ID

C118786;

UMLS CUI

C5848052;

Automatic exact mappings (from CISMeF team)
- Popliteal pterygium syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
- Autosomal dominant popliteal pterygium syndrome [ICD-11 More detail]
- Autosomal dominant popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Popliteal pterygium syndrome [OMIM Phenotype]
- Popliteal pterygium syndrome [PASCAL descriptor]
- popliteal pterygium syndrome [MeSH Supplementary Concept]
DO Cross reference
- popliteal pterygium syndrome [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
- Autosomal dominant popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Popliteal pterygium syndrome [ORDO Disease]
- Popliteal pterygium syndrome [PASCAL descriptor]
- Popliteal pterygium syndrome [OMIM Phenotype]
- Popliteal pterygium syndrome [ACR pathology]
- Popliteal pterygium syndrome [MedDRA Preferred Term]
- Popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- popliteal pterygium syndrome [SNOMED Notion]
- popliteal pterygium syndrome [DO Concept]
- popliteal pterygium syndrome [MeSH Supplementary Concept]
- popliteal pterygium syndrome [MeSH concept]
Validated automatic mappings to NTBT
- Popliteal pterygium syndrome [ORDO Disease]
- Popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- popliteal pterygium syndrome [DO Concept]
- popliteal pterygium syndrome [MeSH concept]
- popliteal pterygium syndrome [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- IRF6 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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