loading...| Preferred Name |
Adrenal Hyperplasia, Congenital |
|
| Synonyms |
Adrenal Hyperplasias, Congenital |
|
| Definitions |
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. |
|
| ID |
http://purl.bioontology.org/ontology/MESH/D000312 |
|
| altLabel |
Adrenal Hyperplasias, Congenital Hyperplasia, Congenital Adrenal Congenital Adrenal Hyperplasia Hyperplasias, Congenital Adrenal Congenital Adrenal Hyperplasias |
|
| AQL |
BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI |
|
| cui |
C0001627 |
|
| DC |
1 |
|
| definition |
A group of inherited disorders of the ADRENAL GLANDS, caused by enzyme defects in the synthesis of cortisol (HYDROCORTISONE) and/or ALDOSTERONE leading to accumulation of precursors for ANDROGENS. Depending on the hormone imbalance, congenital adrenal hyperplasia can be classified as salt-wasting, hypertensive, virilizing, or feminizing. Defects in STEROID 21-HYDROXYLASE; STEROID 11-BETA-HYDROXYLASE; STEROID 17-ALPHA-HYDROXYLASE; 3-beta-hydroxysteroid dehydrogenase (3-HYDROXYSTEROID DEHYDROGENASES); TESTOSTERONE 5-ALPHA-REDUCTASE; or steroidogenic acute regulatory protein; among others, underlie these disorders. |
|
| DX |
19800101 |
|
| FX |
D013252 D014770 D013255 D011629 D013254 D013741 |
|
| HN |
80; was ADRENOGENITAL SYNDROME 1963-79 |
|
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO |
http://purl.bioontology.org/ontology/MESH/D013252 http://purl.bioontology.org/ontology/MESH/D013255 http://purl.bioontology.org/ontology/MESH/D013254 http://purl.bioontology.org/ontology/MESH/D013741 |
|
| Machine permutation |
80; was ADRENOGENITAL SYNDROME 1963-79 |
|
| Mapped from |
http://purl.bioontology.org/ontology/MESH/C537027 http://purl.bioontology.org/ontology/MESH/C564568 http://purl.bioontology.org/ontology/MESH/C567596 http://purl.bioontology.org/ontology/MESH/C538237 http://purl.bioontology.org/ontology/MESH/C538236 http://purl.bioontology.org/ontology/MESH/C535979 |
|
| MDA |
19990101 |
|
| MMR |
20210630 |
|
| MN |
C18.452.648.925.249 C16.320.033 C12.050.351.875.253.090.500 C16.131.939.316.129.500 C19.391.119.090.500 C16.320.565.925.249 C12.800.316.090.500 C19.053.440 C12.200.706.316.090.500 |
|
| notation |
D000312 |
|
| OL |
use ADRENAL HYPERPLASIA, CONGENITAL to search ADRENOGENITAL SYNDROME 1966-79 |
|
| prefLabel |
Adrenal Hyperplasia, Congenital |
|
| TERMUI |
T001012 T001013 T001011 |
|
| TH |
NLM (1966) UNK (19XX) |
|
| tui |
T047 |
|
| subClassOf |
http://purl.bioontology.org/ontology/MESH/D000307 http://purl.bioontology.org/ontology/MESH/D047808 |