bjornstad syndrome

Preferred Label : bjornstad syndrome;

MeSH synonym : pili torti-sensorineural hearing loss; deafness and pili torti, bjornstad type; pili torti and nerve deafness;

Détails

Origin ID

C537633;

UMLS CUI

C0266006;

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]
- Björnstad syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Bjornstad syndrome [PASCAL descriptor]
- Bjornstad syndrome [DO Concept]
- Bjornstad syndrome [OMIM Phenotype]
- Björnstad syndrome [ORDO Disease]
- Pili torti-deafness syndrome (disorder) [SNOMED CT concept]
- pili torti-deafness syndrome [SNOMED Notion]
DO Cross reference
- Bjornstad syndrome [DO Concept]
MeSH term(s) associated for indexing
- hair diseases [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
- mitochondrial diseases [MeSH Descriptor]
ORDO relation(s)
- Björnstad syndrome [ORDO Disease]
Record concept(s)
- Bjornstad syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bjornstad syndrome [OMIM Phenotype]
- Bjornstad syndrome [DO Concept]
- Bjornstad syndrome [PASCAL descriptor]
- Björnstad syndrome [ORDO Disease]
- Pili torti-deafness syndrome (disorder) [SNOMED CT concept]
- pili torti-deafness syndrome [SNOMED Notion]

Position du mot-clé dans l'(les) arborescence(s) :

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