Escobar Syndrome

Preferred Label : Escobar Syndrome;

NCIt definition : A rare congenital disorder, this is the non-lethal variant of multiple pterygium syndrome, characterized by orthopedic and craniofacial abnormalities, pterygium and akinethesia. The majority of cases are autosomal dominant.;

Details

Origin ID

C101039;

UMLS CUI

C0265261;

Automatic exact mappings (from CISMeF team)
- Escobar syndrome [ICD-11 More detail]
- Escobar syndrome [MedDRA LLT]
- Multiple pterygia [HPO term]
Currated CISMeF NLP mapping
- Escobar syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome [MeSH concept]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome, escobar variant [OMIM Phenotype]
- escobar syndrome [SNOMED Notion]
- multiple pterygium syndrome [MeSH Supplementary Concept]
- multiple pterygium syndrome [DO Concept]
- nonlethal multiple pterygium syndrome [Disease (Nov.)]
See also inter- (CISMeF)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive multiple pterygium syndrome [ORDO Disease]
- Escobar syndrome [MedDRA LLT]
- Escobar syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome [MeSH concept]
- Multiple pterygium syndrome [ORDO Disease]
- Multiple pterygium syndrome (disorder) [SNOMED CT concept]
- Multiple pterygium syndrome, escobar variant [OMIM Phenotype]
- escobar syndrome [SNOMED Notion]
- multiple pterygium syndrome [MeSH Supplementary Concept]
- multiple pterygium syndrome [DO Concept]
- nonlethal multiple pterygium syndrome [Disease (Nov.)]
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- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
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- Congenital Lesion [NCIt concept]
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- CHRNG Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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