Björnstad syndrome

Preferred Label : Björnstad syndrome;

ICD-11 definition : Bj?örnstad syndrome is a genetic syndrome characterized by congenital sensorineural hearing loss and pili torti.;

ICD-11 synonym : Deafness - pili torti - hypogonadism; Crandall syndrome;

Details

Origin ID

2035502746;

Automatic exact mappings (from CISMeF team)
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [ORDO Gene]
- BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone [HGNC gene]
- Bjornstad syndrome [PASCAL descriptor]
- Bjornstad syndrome [DO Concept]
- Bjornstad syndrome [MeSH concept]
- Bjornstad syndrome [OMIM Phenotype]
- Björnstad syndrome [ORDO Disease]
- Crandall syndrome [ORDO Disease]
- Crandall's syndrome (disorder) [SNOMED CT concept]
- Pili torti-deafness syndrome (disorder) [SNOMED CT concept]
- bjornstad syndrome [MeSH Supplementary Concept]
- pili torti-deafness syndrome [SNOMED Notion]

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