Congenital isolated adrenocorticotropic hormone deficiency

disorder

SNOMED 1231283007CUI C4055196

Overview

Congenital isolated adrenocorticotropic hormone 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.

ACTH deficient adrenal insufficiency

Always present (100%)HP:0011735

Neonatal hypoglycemia

Always present (100%)HP:0001998

Plasma cortisol low

Always present (100%)HP:0008163

Adrenal hypoplasia

Very frequent (80-99%)HP:0000835

Hyponatremia

Very frequent (80-99%)HP:0002902

Hypotension

Very frequent (80-99%)HP:0002615

Tiredness

Very frequent (80-99%)HP:0012378

Hypoglycemic seizures

Frequent (30-79%)HP:0002173

Jaundice, neonatal

Frequent (30-79%)HP:0006579

Hepatitis

Occasional (5-29%)HP:0012115

Related Conditions

Hereditary disorder of endocrine system(parent)

Hereditary disorder of nervous system(parent)

Congenital disease(parent)

Isolated corticotropin deficiency(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 1231283007
UMLS CUI: C4055196
Fully Specified Name: Congenital isolated adrenocorticotropic hormone deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.