loading...| Preferred Name | congenital adrenal hyperplasia | |
| Synonyms |
congenital lipoid adrenal hyperplasia lipoid CAH adrenogenital syndrome adrenal hyperplasia adrenogenital disorder congenital adrenal gland hyperplasia adrenal hyperplasia, congenital CAH |
|
| Definitions |
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 androgyny manifestations, depending of the type and the severity of the disease. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0018479 |
|
| database_cross_reference |
DOID:0050811 MESH:D000312 icd11.foundation:172733763 NANDO:2100134 MedDRA:10010323 NANDO:2200370 NANDO:1200397 NANDO:1200396 SCTID:237751000 UMLS:C0001627 MEDGEN:7900 NCIT:C34360 Orphanet:418 GARD:1467 ICD9:255.2 NORD:992 |
|
| 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 androgyny manifestations, depending of the type and the severity of the disease. |
|
| has_broad_synonym |
adrenogenital syndrome adrenal hyperplasia adrenogenital disorder |
|
| has_exact_synonym |
congenital adrenal gland hyperplasia adrenal hyperplasia, congenital CAH |
|
| has_related_synonym |
congenital lipoid adrenal hyperplasia lipoid CAH |
|
| id |
MONDO:0018479 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
congenital adrenal hyperplasia |
|
| notation |
MONDO:0018479 |
|
| preferred label |
congenital adrenal hyperplasia |
|
| prefLabel |
congenital adrenal hyperplasia |
|
| skos_closeMatch | ||
| skos_exactMatch |
http://identifiers.org/mesh/D000312 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/172733763 http://linkedlifedata.com/resource/umls/id/C0001627 http://purl.obolibrary.org/obo/DOID_0050811 http://identifiers.org/medgen/7900 http://purl.obolibrary.org/obo/Orphanet_418 |
|
| subClassOf |
http://purl.obolibrary.org/obo/MONDO_0015129 http://www.ebi.ac.uk/efo/EFO_0005590 |