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congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008730

A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. [ Orphanet:90793 ]

Term info

database cross reference
  • ICD9:277.6 (MONDO:relatedTo)
  • SCTID:124220008 (MONDO:equivalentTo)
  • GARD:0001469 (MONDO:equivalentTo)
  • Orphanet:90793 (OMIM:202110)
  • OMIM:202110 (Orphanet:90793/e)
Subsets

ordo_disease

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4069, https://github.com/monarch-initiative/mondo/issues/4521

definition

A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

exactMatch

http://purl.obolibrary.org/obo/Orphanet_90793, https://omim.org/entry/202110, http://identifiers.org/snomedct/124220008

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019852

has exact synonym

CAH due to 17-alpha-hydroxylase deficiency, combined 17-hydroxylase/17,20-lyase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency

has related synonym

adrenal hyperplasia 5, 17,20-lyase deficiency, isolated, 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined complete, adrenal hyperplasia, congenital, due to 17-ALPHA-HYDROXYLASE deficiency, congenital adrenal hyperplasia type 5, 17-Alpha-Hydroxylase deficiency, 17-Alpha-Hydroxylase/17,20-lyase deficiency, combined partial

id

MONDO:0008730

seeAlso

https://rarediseases.info.nih.gov/diseases/1469/17-alpha-hydroxylase-deficiency