Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

disorder

SNOMED 717261006CUI C4273964

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.

Abnormal response to ACTH stimulation test

Very frequent (80-99%)HP:0031074

Elevated circulating 17-OHP

Very frequent (80-99%)HP:0031213

Increased circulating androgen concentration

Very frequent (80-99%)HP:0030348

Increased circulating progesterone

Very frequent (80-99%)HP:0031216

Plasma cortisol low

Very frequent (80-99%)HP:0008163

Abnormal external genitalia morphology

Frequent (30-79%)HP:0000811

Abnormal ovarian physiology

Frequent (30-79%)HP:0031066

Abnormal serum dehydroepiandrosterone level

Frequent (30-79%)HP:0500022

Adrenocortical insufficiency

Frequent (30-79%)HP:0008207

Breaking out

Frequent (30-79%)HP:0001061

Decreased body height

Frequent (30-79%)HP:0004322

Decreased fertility

Frequent (30-79%)HP:0000144

Dehydration

Frequent (30-79%)HP:0001944

Early bone maturation

Frequent (30-79%)HP:0005616

Elevated urinary epinephrine level

Frequent (30-79%)HP:0003639

Feeding difficulties

Frequent (30-79%)HP:0011968

Growth abnormality

Frequent (30-79%)HP:0001507

High serum testosterone level

Frequent (30-79%)HP:0030088

Hirsutism

Frequent (30-79%)HP:0001007

Hyperkalemia

Frequent (30-79%)HP:0002153

Hyperkalemic metabolic acidosis

Frequent (30-79%)HP:0005976

Hypernatriuria

Frequent (30-79%)HP:0012605

Hypochloremia

Frequent (30-79%)HP:0003113

Hyponatremia

Frequent (30-79%)HP:0002902

Hypotension

Frequent (30-79%)HP:0002615

Hypovolemia

Frequent (30-79%)HP:0011106

Increased circulating ACTH level

Frequent (30-79%)HP:0003154

Increased circulating androstenedione concentration

Frequent (30-79%)HP:0025380

Increased plasma renin activity

Frequent (30-79%)HP:0000841

Light or infrequent menstrual periods

Frequent (30-79%)HP:0000876

Related Conditions

Steroid 21-monooxygenase deficiency, simple virilizing type(child)

Steroid 21-monooxygenase deficiency, salt wasting type(child)

Congenital adrenal hyperplasia(parent)

Quick Facts

SNOMED CT: 717261006
UMLS CUI: C4273964
Fully Specified Name: Classic congenital adrenal hyperplasia due to 21-hydroxylase 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.