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Alport syndrome

^ http://www.orpha.net/ORDO/Orphanet_63


Alport syndrome (AS) is an inherited disease characterised by glomerular nephropathy with hematuria, progressing to end-stage renal disease, associated with sensorineural deafness. It involves a structural defect of type IV collagen, which is a normal component of the glomeral basal membrane.

Synonyms: Alport deafness-nephropathy

Term info

database cross reference
  • MeSH:D009394 (E (exact mapping (the terms and the concepts are equivalent)))
  • ICD-10:Q87.8 (Inclusion term (The term is included under a ICD10 category and has not its own code))
  • ICD-10:Q87.8 (NTBT (narrower term maps to a broader term))
  • OMIM:104200 (BTNT (broader term maps to a narrower term))
  • UMLS:C1567741 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:301050 (BTNT (broader term maps to a narrower term))
  • MedDRA:10001843 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:203780 (BTNT (broader term maps to a narrower term))
hasDbXref

OMIM:203780, MedDRA:10001843, MeSH:D009394, OMIM:104200, ICD-10:Q87.8, OMIM:301050, UMLS:C1567741

notation

ORPHA:63