Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency

Preferred Label : Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency;

NCIt synonyms : Disordered Steroidogenesis due to Cytochrome P450 Oxidoreductase Deficiency;

NCIt definition : A genetic condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is characterized by glucocorticoid deficiency, sexual ambiguity in both boys and girls, and skeletal malformations.;

Details

Origin ID

C174439;

UMLS CUI

C1860042;

Currated CISMeF NLP mapping
- Antley-Bixler syndrome phenotype [MeSH Descriptor]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ORDO Disease]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency [ICD-11 More detail]
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) [SNOMED CT concept]
- Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency [OMIM Phenotype]
- POR deficiency [MeSH concept]
- cytochrome P450 oxidoreductase deficiency [Disease (Nov.)]
Has associated anatomic sites
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency (disorder) [SNOMED CT concept]
- Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency [OMIM Phenotype]
- POR deficiency [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Adrenal Gland [NCIt concept]
- Peritoneum and Retroperitoneum [NCIt concept]
- Retroperitoneum [NCIt concept]
disease_mapped_to_gene
- POR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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