National Drug File - Reference Terminology - Adrenal Hyperplasia, Congenital [Disease/Finding] - Classes | NCBO BioPortal

National Drug File - Reference Terminology

Last uploaded: July 6, 2018

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Preferred Name	Adrenal Hyperplasia, Congenital [Disease/Finding]
Synonyms	Hyperplasia, Congenital Adrenal Congenital Adrenal Hyperplasia Adrenal Hyperplasia, Congenital
ID	http://purl.bioontology.org/ontology/NDFRT/N0000000328
altLabel	Hyperplasia, Congenital Adrenal Congenital Adrenal Hyperplasia Adrenal Hyperplasia, Congenital
cui	C0001627
May be treated by	http://purl.bioontology.org/ontology/NDFRT/N0000178429 http://purl.bioontology.org/ontology/NDFRT/N0000151020 http://purl.bioontology.org/ontology/NDFRT/N0000146296 http://purl.bioontology.org/ontology/NDFRT/N0000171814 http://purl.bioontology.org/ontology/NDFRT/N0000023295 http://purl.bioontology.org/ontology/NDFRT/N0000151058 http://purl.bioontology.org/ontology/NDFRT/N0000151063 http://purl.bioontology.org/ontology/NDFRT/N0000151077 http://purl.bioontology.org/ontology/NDFRT/N0000151023 http://purl.bioontology.org/ontology/NDFRT/N0000151064 http://purl.bioontology.org/ontology/NDFRT/N0000151047 http://purl.bioontology.org/ontology/NDFRT/N0000151078 http://purl.bioontology.org/ontology/NDFRT/N0000151067 http://purl.bioontology.org/ontology/NDFRT/N0000151057 http://purl.bioontology.org/ontology/NDFRT/N0000146294 http://purl.bioontology.org/ontology/NDFRT/N0000151019 http://purl.bioontology.org/ontology/NDFRT/N0000151053 http://purl.bioontology.org/ontology/NDFRT/N0000151065 http://purl.bioontology.org/ontology/NDFRT/N0000151044 http://purl.bioontology.org/ontology/NDFRT/N0000148469 http://purl.bioontology.org/ontology/NDFRT/N0000151055 http://purl.bioontology.org/ontology/NDFRT/N0000151045 http://purl.bioontology.org/ontology/NDFRT/N0000151054 http://purl.bioontology.org/ontology/NDFRT/N0000151061 http://purl.bioontology.org/ontology/NDFRT/N0000146292 http://purl.bioontology.org/ontology/NDFRT/N0000151041 http://purl.bioontology.org/ontology/NDFRT/N0000146291 http://purl.bioontology.org/ontology/NDFRT/N0000146297 http://purl.bioontology.org/ontology/NDFRT/N0000161894 http://purl.bioontology.org/ontology/NDFRT/N0000151025 http://purl.bioontology.org/ontology/NDFRT/N0000151043 http://purl.bioontology.org/ontology/NDFRT/N0000151046 http://purl.bioontology.org/ontology/NDFRT/N0000151033 http://purl.bioontology.org/ontology/NDFRT/N0000151027 http://purl.bioontology.org/ontology/NDFRT/N0000151062 http://purl.bioontology.org/ontology/NDFRT/N0000151034 http://purl.bioontology.org/ontology/NDFRT/N0000151028 http://purl.bioontology.org/ontology/NDFRT/N0000191226 http://purl.bioontology.org/ontology/NDFRT/N0000146293 http://purl.bioontology.org/ontology/NDFRT/N0000162821 http://purl.bioontology.org/ontology/NDFRT/N0000151030 http://purl.bioontology.org/ontology/NDFRT/N0000151074 http://purl.bioontology.org/ontology/NDFRT/N0000151048 http://purl.bioontology.org/ontology/NDFRT/N0000146295 http://purl.bioontology.org/ontology/NDFRT/N0000183312
MESH 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.
MESH DUI	D000312
MeSH name	Adrenal Hyperplasia, Congenital
MESH UI	M0000487
NDFRT kind	DISEASE_KIND
notation	N0000000328
NUI	N0000000328
prefLabel	Adrenal Hyperplasia, Congenital [Disease/Finding]
SNOMED CID	237751000
tui	T047
subClassOf	http://purl.bioontology.org/ontology/NDFRT/N0000010958

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNMI/D6-80100	SNMI	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D000312	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MEDDRA/10010323	MEDDRA	CUI
	http://purl.bioontology.org/ontology/MDRGER/10010323	MDRGER	CUI
	http://purl.bioontology.org/ontology/OMIM/MTHU014663	OMIM	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/237751000	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/LNC/LA12533-8	LOINC	CUI
	http://purl.bioontology.org/ontology/CSP/0060-3730	CRISP	CUI
	http://purl.bioontology.org/ontology/MEDLINEPLUS/C0001627	MEDLINEPLUS	CUI
	http://purl.bioontology.org/ontology/MESH/D000312	MESH	CUI
	http://purl.bioontology.org/ontology/MDRFRE/10010323	MDRFRE	CUI
	http://purl.bioontology.org/ontology/RCD/X40MT	RCD	CUI
	http://purl.bioontology.org/ontology/LNC/LP56767-4	LOINC	CUI
	http://purl.bioontology.org/ontology/ICD10CM/E25.0	ICD10CM	CUI
	http://purl.bioontology.org/ontology/LNC/MTHU021596	LOINC	CUI
	http://purl.bioontology.org/ontology/SCTSPA/237751000	SCTSPA	CUI
	http://evs.nci.nih.gov/ftp1/NDF-RT/NDF-RT.owl#N0000000328	ODAE	LOOM