Deafness - skeletal dysplasia - lip granuloma

Preferred Label : Deafness - skeletal dysplasia - lip granuloma;

ICD-11 definition : Deafness - skeletal dysplasia - lip granuloma syndrome is characterised by the association of deafness, intellectual deficit, facial dysmorphy, and skeletal abnormalities.;

ICD-11 synonym : Fountain syndrome;

Détails

Origin ID

1757651132;

Automatic exact mappings (from CISMeF team)
- Deafness with skeletal dysplasia and lip granuloma syndrome (disorder) [SNOMED CT concept]
- Fountain syndrome [ORDO Disease]
- Fountain syndrome [MeSH concept]
- Fountain syndrome [OMIM Phenotype]
- Fountain syndrome [MedDRA Preferred Term]
- fountain syndrome [MeSH Supplementary Concept]

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