adrenal hyperplasia, congenital

Preferred Label : adrenal hyperplasia, congenital;

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 synonym : hyperplasias, congenital adrenal; congenital adrenal hyperplasias; adrenal hyperplasias, congenital; congenital adrenal hyperplasia; hyperplasia, congenital adrenal;

Wikipedia link : https://en.wikipedia.org/wiki/Congenital adrenal hyperplasia;

Details

Origin ID

D000312;

UMLS CUI

C0001627;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- 3 beta-Hydroxysteroid dehydrogenase deficiency (disorder) [SNOMED CT concept]
- Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency [OMIM Phenotype]
- COLITIS HAEMORRHAGIC [WHO-ART Preferred Term]
- CYCS wt Allele [NCIt concept]
- Congenital adrenogenital disorders associated with enzyme deficiency [ICD-10 Sub-category]
- Deficiency of steroid 17-alpha-monooxygenase (disorder) [SNOMED CT concept]
- Diarrhoea and gastroenteritis of presumed infectious origin [ICD-10 category (who)]
- Human placental lactogen (substance) [SNOMED CT concept]
- Hyperspectral Camera System [NCIt concept]
- Hypoglycemic Confidence Scale Questionnaire [NCIt concept]
- Primary congenital hypothyroidism [ORDO Disease]
- Steroid 21-monooxygenase deficiency, simple virilizing type (disorder) [SNOMED CT concept]
- adrenal gland disorders [MedlinePlus Topic]
- congenital adrenal cortical hyperplasia, nos [TUV Concept]
- hemorrhagic colitis, nos [SNOMED Notion]
- steroid 11 beta-monooxygenase deficiency [SNOMED Notion]
Currated CISMeF NLP mapping
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital adrenal hyperplasia [ICD-11 Sub-sub category]
- Congenital adrenal hyperplasia [HPO term]
- Congenital adrenal hyperplasia [LOINC component]
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia [MedDRA LLT]
- Congenital adrenal hyperplasia (disorder) [SNOMED CT concept]
- Congenital adrenogenital syndrome (disorder) [Inactive SNOMED CT concept]
- congenital adrenal cortical hyperplasia, nos [SNOMED Notion]
- congenital adrenal hyperplasia [DO Concept]
- congenital adrenal hyperplasia [Disease (Nov.)]
False automatic mappings
- Hypotonia-cystinuria syndrome [ICD-11 More detail]
HPO term
- Congenital adrenal hyperplasia [HPO term]
Indexing information
- CYP21A2 protein, human [MeSH Supplementary Concept]
Manual NTBT mappings (CISMeF)
- 46,XX disorder of sex development induced by fetal androgens excess [ORDO Disease]
- 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect [ORDO Disease]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency [ORDO Disease]
- Genetic chronic primary adrenal insufficiency [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Rare endocrine growth disease [ORDO Disease]
MeSH Descriptor(s) used for indexing
- adrenocortical hyperfunction [MeSH Descriptor]
- steroid 11-beta-hydroxylase [MeSH Descriptor]
- steroid 17-alpha-hydroxylase [MeSH Descriptor]
- steroid 21-hydroxylase [MeSH Descriptor]
MedlinePlus topic(s)
- adrenal gland disorders [MedlinePlus Topic]
ORDO relation(s)
- Congenital adrenal hyperplasia [ORDO Disease]
Record concept(s)
- adrenal hyperplasia, congenital [MeSH concept]
Related MeSH Supplementary Concept(s)
- 17,20-Lyase deficiency, isolated [MeSH Supplementary Concept]
- adrenal hyperplasia 2 [MeSH Supplementary Concept]
- adrenal hyperplasia, congenital, type 5 [MeSH Supplementary Concept]
- adrenal hypoplasia, congenital, with precocious puberty [MeSH Supplementary Concept]
- congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency [MeSH Supplementary Concept]
- congenital adrenal hyperplasia due to 21 hydroxylase deficiency [MeSH Supplementary Concept]
- lipoid congenital adrenal hyperplasia [MeSH Supplementary Concept]
- mineralocorticoid deficiency, isolated [MeSH Supplementary Concept]
See also
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase [MeSH Descriptor]
- puberty, precocious [MeSH Descriptor]
- steroid 11-beta-hydroxylase [MeSH Descriptor]
- steroid 17-alpha-hydroxylase [MeSH Descriptor]
- steroid 21-hydroxylase [MeSH Descriptor]
- virilism [MeSH Descriptor]
See also (suggested by CISMeF)
- adrenocortical hyperfunction [MeSH Descriptor]
- adrenogenital syndrome [MeSH Descriptor]
- hyperplasia [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital Adrenal Hyperplasia [NCIt concept]
- Congenital adrenal hyperplasia [MedDRA LLT]
- Congenital adrenal hyperplasia [ORDO Disease]
- Congenital adrenal hyperplasia [HPO term]
- Congenital adrenal hyperplasia [LOINC component]
- Congenital adrenal hyperplasia [ICD-11 Sub-sub category]
- Congenital adrenal hyperplasia (disorder) [SNOMED CT concept]
- congenital adrenal hyperplasia [Disease (Nov.)]

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