Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency

disorder

SNOMED 715733000CUI C1860042

Overview

Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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.

Abnormal response to ACTH stimulation test

Very frequent (80-99%)HP:0031074

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Abnormal circulating pregnenolone concentration

Frequent (30-79%)HP:0031187

Abnormal external genitalia morphology

Frequent (30-79%)HP:0000811

Abnormal female external genitalia

Frequent (30-79%)HP:0000055

Abnormal ovarian morphology

Frequent (30-79%)HP:0031065

Abnormal response to human chorionic gonadotrophin stimulation test

Frequent (30-79%)HP:0031083

Abnormality of male external genitalia

Frequent (30-79%)HP:0000032

Abnormality of skeletal maturation

Frequent (30-79%)HP:0000927

Decreased circulating dehydroepiandrosterone-sulfate concentration

Frequent (30-79%)HP:0031215

Decreased fertility

Frequent (30-79%)HP:0000144

Decreased serum estradiol

Frequent (30-79%)HP:0008214

Elbow ankylosis

Frequent (30-79%)HP:0003070

Elevated circulating 17-OHP

Frequent (30-79%)HP:0031213

Enlarged adrenal glands

Frequent (30-79%)HP:0008221

Fixed flexion at the elbow joint

Frequent (30-79%)HP:0002987

Hirsutism

Frequent (30-79%)HP:0001007

Hypocortisolism

Frequent (30-79%)HP:0008163

Increased circulating ACTH level

Frequent (30-79%)HP:0003154

Increased circulating progesterone

Frequent (30-79%)HP:0031216

Limited forearm extension

Frequent (30-79%)HP:0001377

Oligospermia

Frequent (30-79%)HP:0000798

Sclerocystic ovaries

Frequent (30-79%)HP:0000147

Abnormal antihelix morphology

Occasional (5-29%)HP:0009738

Abnormal earlobe morphology

Occasional (5-29%)HP:0000363

Abnormal hands

Occasional (5-29%)HP:0001155

Abnormal metacarpal epiphysis morphology

Occasional (5-29%)HP:0005913

Abnormality of metacarpophalangeal joint

Occasional (5-29%)HP:0011911

Abnormality of the wrist

Occasional (5-29%)HP:0003019

Ambiguous external genitalia

Occasional (5-29%)HP:0000062

Related Conditions

Congenital adrenal hyperplasia(parent)

Quick Facts

SNOMED CT: 715733000
UMLS CUI: C1860042
Fully Specified Name: Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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.