JSON

congenital adrenal hyperplasia

^ http://purl.obolibrary.org/obo/MONDO_0018479

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease. [ Orphanet:418 ]

Term info

database cross reference
  • GARD:0001467 (MONDO:equivalentTo)
  • Orphanet:418 (MONDO:equivalentTo)
  • SCTID:237751000 (MONDO:equivalentTo)
  • NCIT:C34360 (MONDO:equivalentTo)
  • MedDRA:10010323 (Orphanet:418/e)
  • UMLS:C0001627 (Orphanet:418/e)
  • UMLS:C0701163 (MONDO:equivalentTo)
  • MESH:D000312 (Orphanet:418/e)
  • ICD9:255.2 (DOID:0050811)
  • DOID:0050811 (MONDO:equivalentTo)
Subsets

disease_grouping, ordo_group_of_disorders

abbreviation
CAH [ Orphanet:418 ]

closeMatch

http://identifiers.org/meddra/10010323

definition

Congenital adrenal hyperplasia (CAH) is an inherited endocrine disorder caused by a steroidogenic enzyme deficiency that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations, depending of the type and the severity of the disease.

exactMatch

http://purl.obolibrary.org/obo/DOID_0050811, http://identifiers.org/mesh/D000312, http://linkedlifedata.com/resource/umls/id/C0701163, http://linkedlifedata.com/resource/umls/id/C0001627, http://identifiers.org/snomedct/237751000, http://purl.obolibrary.org/obo/Orphanet_418, http://purl.obolibrary.org/obo/NCIT_C34360

has broad synonym

adrenal hyperplasia, adrenogenital disorder, adrenogenital syndrome

has exact synonym

adrenal hyperplasia, congenital, congenital adrenal gland hyperplasia, CAH

has related synonym

congenital lipoid adrenal hyperplasia, lipoid CAH

id

MONDO:0018479