| Metadata | |
|---|---|
| ID | DOID:0050811 |
| Name | congenital adrenal hyperplasia |
| Definition | A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. http://omim.org/entry/201710, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0, http://www.genome.jp/dbget-bin/www_bget?ds:H00216 |
| Xrefs |
SNOMEDCT_US_2023_03_01:154706003 |
| Subsets |
DO_rare_slim |
| Synonyms |
adrenal hyperplasia 1 [EXACT] congenital lipoid adrenal hyperplasia [EXACT] lipoid CAH [EXACT] |
| Parent Relationships |
is_a steroid inherited metabolic disorder is_a physical disorder |
| Subclass Logical Relationships |
disease has basis in some Abnormality of prenatal development or birth |