popliteal pterygium syndrome

Preferred Label : popliteal pterygium syndrome;

MeSH note : mutation in IRF6;

CISMeF synonym : cleft Lip/Palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies;

MeSH synonym : faciogenitopopliteal syndrome; Facio-Genito-Popliteal syndrome; Cleft Lip-Palate, Paramedian Mucous Cysts Of The Lower Lip, Popliteal Pterygium, Digital And Genital Anomalies;

Is substance : O;

Details

Origin ID

C562509;

UMLS CUI

C0265259;

Automatic exact mappings (from CISMeF team)
- Popliteal pterygium syndrome [ICD-11 More detail]
- Popliteal pterygium syndrome [MedDRA Preferred Term]
Currated CISMeF NLP mapping
- Autosomal Dominant Popliteal Pterygium Syndrome [NCIt 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 [ACR pathology]
- Popliteal pterygium syndrome [OMIM Phenotype]
- Popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- popliteal pterygium syndrome [SNOMED Notion]
- popliteal pterygium syndrome [DO Concept]
DO Cross reference
- popliteal pterygium syndrome [DO Concept]
MeSH term(s) associated for indexing
- cleft lip [MeSH Descriptor]
- cleft palate [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- fingers [MeSH Descriptor]
- knee joint [MeSH Descriptor]
- lower extremity deformities, congenital [MeSH Descriptor]
- syndactyly [MeSH Descriptor]
- urogenital abnormalities [MeSH Descriptor]
Record concept(s)
- popliteal pterygium syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Popliteal Pterygium Syndrome [NCIt concept]
- Autosomal dominant popliteal pterygium syndrome [ORDO Disease]
- Autosomal dominant popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- Popliteal pterygium syndrome [OMIM Phenotype]
- Popliteal pterygium syndrome [ACR pathology]
- Popliteal pterygium syndrome [ORDO Disease]
- Popliteal pterygium syndrome [PASCAL descriptor]
- Popliteal pterygium syndrome [MedDRA Preferred Term]
- Popliteal pterygium syndrome (disorder) [SNOMED CT concept]
- popliteal pterygium syndrome [SNOMED Notion]
- popliteal pterygium syndrome [DO Concept]
Validated automatic mappings to NTBT
- Popliteal pterygium syndrome [PASCAL descriptor]

Keyword's position in hierarchy(ies) :

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