Goldenhar Syndrome

Preferred Label : Goldenhar Syndrome;

NCIt definition : A congenital birth defect characterized by incomplete development or absence of face structures, usually affecting one side of the face. The defects include partially formed or absent ear, nose, lip, mandible, and/or soft palate.;

Details

Origin ID

C84740;

UMLS CUI

C0265240;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category (who)]
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Craniofacial microsomia [OMIM Phenotype]
- Goldenhar syndrome [ACR pathology]
- Goldenhar syndrome [ACR pathology]
- Goldenhar syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- goldenhar syndrome [MeSH Descriptor]
- goldenhar syndrome [MeSH concept]
DO Cross reference
- Goldenhar syndrome [DO Concept]
See also inter- (CISMeF)
- Craniofacial microsomia [OMIM Phenotype]
- Facio-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Craniofacial microsomia [OMIM Phenotype]
- Craniofacial microsomia (disorder) [SNOMED CT concept]
- Facio-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- First and second branchial arch syndrome (disorder) [SNOMED CT concept]
- First arch syndrome (disorder) [SNOMED CT concept]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [Disease (Nov.)]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- Oculo-auriculo-vertebral spectrum (disorder) [SNOMED CT concept]
- Oculoauriculovertebral dysplasia [MedDRA Preferred Term]
- Otomandibular dysostosis (disorder) [SNOMED CT concept]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- first arch syndrome, nos [SNOMED Notion]
- goldenhar syndrome [MeSH concept]
- goldenhar syndrome [MeSH Descriptor]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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