Familial glucocorticoid deficiency

disorder

SNOMED 765326001CUI C4054695

Overview

Familial glucocorticoid deficiency is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

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

Hypoadrenalism

Always present (100%)HP:0000846

Hypocortisolism

Always present (100%)HP:0008163

Abnormality of circulating adrenocorticotropin level

Very frequent (80-99%)HP:0011043

Decreased circulating dehydroepiandrosterone concentration

Very frequent (80-99%)HP:0031214

Generalised hyperpigmentation

Very frequent (80-99%)HP:0007440

Hypotension

Very frequent (80-99%)HP:0002615

Impaired cortisol response to insulin stimulation test

Very frequent (80-99%)HP:0031076

Ketotic hypoglycemia

Very frequent (80-99%)HP:0012734

Undergrowth

Very frequent (80-99%)HP:0001508

Chronic extreme exhaustion

Frequent (30-79%)HP:0012432

Constipation

Frequent (30-79%)HP:0002019

Diarrhea

Frequent (30-79%)HP:0002014

Hyperkalemia

Frequent (30-79%)HP:0002153

Hypernatriuria

Frequent (30-79%)HP:0012605

Hypoglycemic seizures

Frequent (30-79%)HP:0002173

Hyponatremia

Frequent (30-79%)HP:0002902

Intermittent abdominal pain

Frequent (30-79%)HP:0002574

Refusing to eat

Frequent (30-79%)HP:0002039

Salt wasting

Frequent (30-79%)HP:0000127

Susceptibility to infection

Frequent (30-79%)HP:0002719

Vomiting

Frequent (30-79%)HP:0002013

Weight loss

Frequent (30-79%)HP:0001824

Accelerated linear growth

Occasional (5-29%)HP:0000098

Cryptorchidism

Occasional (5-29%)HP:0000028

Decreased aldosterone production

Occasional (5-29%)HP:0004319

Precocious puberty

Occasional (5-29%)HP:0000826

Testicular adrenal rest tumor

Occasional (5-29%)HP:0025451

Azoospermia

Very rare (1-4%)HP:0000027

Cardiomyopathy, hypertrophic

Very rare (1-4%)HP:0001639

Congenital hypothyroidism

Very rare (1-4%)HP:0000851

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Adrenocorticotropic hormone resistance syndrome(parent)

Quick Facts

SNOMED CT: 765326001
UMLS CUI: C4054695
Fully Specified Name: Familial glucocorticoid deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.