classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
http://purl.obolibrary.org/obo/MONDO_0008728
The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia. [ Orphanet:90794 ]
Term info
- SCTID:124221007 (MONDO:equivalentTo)
- MESH:C535979 (https://github.com/monarch-initiative/mondo/issues/2210)
- Orphanet:90794 (OMIM:201910)
- SCTID:717261006 (MONDO:equivalentTo)
- GARD:0012665 (MONDO:equivalentTo)
- UMLS:C4273964 (MONDO:equivalentTo)
- OMIM:201910 (Orphanet:90794/e)
- NCIT:C131087 (MONDO:equivalentTo)
- GARD:0005757 (MONDO:equivalentTo)
gard_rare, ordo_disease
https://github.com/monarch-initiative/mondo/issues/4069
The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.
http://purl.obolibrary.org/obo/NCIT_C131087, http://identifiers.org/mesh/C535979, https://omim.org/entry/201910, http://purl.obolibrary.org/obo/Orphanet_90794, http://linkedlifedata.com/resource/umls/id/C4273964, http://identifiers.org/snomedct/124221007, http://identifiers.org/snomedct/717261006
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, 21-OHD, classic 21-OHD CAH
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 21-hydroxylase deficiency, adrenal hyperplasia 3, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, hyperandrogenism, Nonclassic type, due to 21-Hydroxylase deficiency, 21 hydroxylase deficiency, adrenal hyperplasia, congenital, due to 21-HYDROXYLASE deficiency, congenital adrenal hyperplasia 1, CYP21 deficiency
MONDO:0008728