Goldenhar syndrome

Preferred Label : Goldenhar syndrome;

ICD-11 definition : Goldenhar's syndrome, also known as oculo-auriculo-vertebral dysplasia (OAV), is a rare condition characterized by the triad (usually unilateral) of craniofacial microsomia, ocular dermoid cysts and spinal anomalies.;

Details

Origin ID

17557903;

Automatic exact mappings (from CISMeF team)
- Congenital malformation syndromes predominantly affecting facial appearance [ICD-10 Sub-category]
- Craniofacial microsomia 1 [OMIM Phenotype]
- Goldenhar Syndrome [NCIt concept]
- Goldenhar syndrome [ORDO Disease]
- Goldenhar syndrome [DO Concept]
- Goldenhar syndrome [PASCAL descriptor]
- Goldenhar syndrome (disorder) [SNOMED CT concept]
- Goldenhar's syndrome [MedDRA LLT]
- facio-auriculo-vertebral spectrum [SNOMED Notion]
- goldenhar syndrome [MeSH Descriptor]
- goldenhar syndrome [MeSH concept]

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