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Medical Subject Headings
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/MESH/C535979
http://purl.bioontology.org/ontology/MESH/C535979
|
|---|---|
| Preferred Name | Congenital adrenal hyperplasia due to 21 hydroxylase deficiency |
| Synonyms |
CYP21 deficiency
NCCAH
Attenuated congenital adrenal hyperplasia
Non classic congenital adrenal hyperplasia
21-Hydroxylase Deficiency
21 alpha hydroxylase deficiency
21 hydroxylase deficiency
Congenital adrenal hyperplasia 1
Late-onset congenital adrenal hyperplasia
LOCAH
Adrenal hyperplasia III
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
CYP21 deficiency
NCCAH
Attenuated congenital adrenal hyperplasia
Non classic congenital adrenal hyperplasia
21-Hydroxylase Deficiency
21 alpha hydroxylase deficiency
21 hydroxylase deficiency
Congenital adrenal hyperplasia 1
Late-onset congenital adrenal hyperplasia
LOCAH
Adrenal hyperplasia III
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|
|---|---|
| prefLabel |
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
|
| TH |
GHR (2014)
ORD (2010)
|
| notation |
C535979
|
| MMR |
20160929
|
| MeSH Frequency |
418
|
| Semantic type UMLS property | |
| HM |
D000312
|
| Inverse of RB |
0
|
| Scope Statement |
Congenital adrenal hyperplasia that results from a deficiency in one or another of the enzymes of CORTISOL biosynthesis. In most cases, 21-hydroxylation is impaired in the ZONA FASCICULATA of the ADRENAL CORTEX so that 17-HYDROXYPROGESTERONE (17-OHP) is not converted to 11-DEOXYCORTISOL. This causes excessive production of ANDROGENS and VIRILIZATION. Caused by germline mutations in the CYP21A2 gene. OMIM: 201910
|
| MDA |
20100825
|
| SC |
3
|
| type | |
| Mapped to | |
| tui |
T047
|
| cui |
C0342467
C2936858
|
| TERMUI |
T737867
T737863
T744051
T744048
T744050
T737861
T744049
T744052
T737868
T840747
T737862
T737864
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