Corticosterone 18-monooxygenase deficiency

disorder

SNOMED 47757001CUI C0268293

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Decreased aldosterone production

Always present (100%)HP:0004319

Hyperkalemia

Always present (100%)HP:0002153

Hyponatremia

Always present (100%)HP:0002902

Increased circulating 18-hydroxycortisone level

Always present (100%)HP:0020200

Increased circulating corticosterone level

Always present (100%)HP:0032362

Decrease in blood pressure upon standing up

HP:0001278

Dehydration

HP:0001944

Feeding difficulties in infancy

HP:0008872

Growth failure

HP:0001510

Hypotension

HP:0002615

Increased plasma renin

HP:0000848

Intermittent fever

HP:0001954

Poor weight gain

HP:0001508

Salt wasting

HP:0000127

Vomiting

HP:0002013

Related Conditions

Congenital adrenal hyperplasia(parent)

Enzymopathy(parent)

Disorder of steroid metabolism(parent)

Aldosterone deficiency(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 47757001
UMLS CUI: C0268293
Fully Specified Name: Corticosterone 18-monooxygenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 15

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.