Medical Subject Headings

Last uploaded: January 16, 2025

Id	http://purl.bioontology.org/ontology/MESH/D000312 http://purl.bioontology.org/ontology/MESH/D000312
Preferred Name	Adrenal Hyperplasia, 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.
Synonyms	Adrenal Hyperplasias, Congenital Hyperplasia, Congenital Adrenal Congenital Adrenal Hyperplasia Hyperplasias, Congenital Adrenal Congenital Adrenal Hyperplasias
Type	http://www.w3.org/2002/07/owl#Class

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.
altLabel	Adrenal Hyperplasias, Congenital Hyperplasia, Congenital Adrenal Congenital Adrenal Hyperplasia Hyperplasias, Congenital Adrenal Congenital Adrenal Hyperplasias
prefLabel	Adrenal Hyperplasia, Congenital
TH	NLM (1966) UNK (19XX)
notation	D000312
DX	19800101
Machine permutation	80; was ADRENOGENITAL SYNDROME 1963-79
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 See more See less
FX	D013252 D014770 D013255 D011629 D013254 D013741 See more See less
MMR	20210630
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 http://purl.bioontology.org/ontology/MESH/C535978 http://purl.bioontology.org/ontology/MESH/C567076 See more See less
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
HN	80; was ADRENOGENITAL SYNDROME 1963-79
subClassOf	http://purl.bioontology.org/ontology/MESH/D000307 http://purl.bioontology.org/ontology/MESH/D047808 http://purl.bioontology.org/ontology/MESH/D030342 http://purl.bioontology.org/ontology/MESH/D043202
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
DC	1
MDA	19990101
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 http://purl.bioontology.org/ontology/MESH/D011629 http://purl.bioontology.org/ontology/MESH/D014770 See more See less
type	http://www.w3.org/2002/07/owl#Class
tui	T047
cui	C0001627
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 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
OL	use ADRENAL HYPERPLASIA, CONGENITAL to search ADRENOGENITAL SYNDROME 1966-79
TERMUI	T001012 T001013 T001011

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