Cholesterol monooxygenase (side-chain cleaving) deficiency

disorder

SNOMED 44231009CUI C0342474

Overview

Cholesterol monooxygenase (side-chain cleaving) 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.

Female external genitalia in individual with 46,XY karyotype

Very frequent (80-99%)HP:0008730

Increased circulating ACTH level

Very frequent (80-99%)HP:0003154

Melanoderma

Very frequent (80-99%)HP:0000953

Abnormal circulating androgen level

Frequent (30-79%)HP:0030347

Abnormal female external genitalia

Frequent (30-79%)HP:0000055

Enlarged adrenal glands

Frequent (30-79%)HP:0008221

Hyperkalemia

Frequent (30-79%)HP:0002153

Hyponatremia

Frequent (30-79%)HP:0002902

Increased plasma renin activity

Frequent (30-79%)HP:0000841

Plasma cortisol low

Frequent (30-79%)HP:0008163

Pyrexia

Frequent (30-79%)HP:0001945

Vomiting

Frequent (30-79%)HP:0002013

Abnormality of the nervous system

Occasional (5-29%)HP:0000707

Encephalopathy

Occasional (5-29%)HP:0001298

Large testis

Occasional (5-29%)HP:0000053

Low blood sugar

Occasional (5-29%)HP:0001943

Male pseudohermaphroditism

Occasional (5-29%)HP:0000037

Osteochondronecrosis

Occasional (5-29%)HP:0010885

Pneumonia

Occasional (5-29%)HP:0002090

Seizures

Occasional (5-29%)HP:0001250

Undergrowth

Occasional (5-29%)HP:0001508

Yellowing of the skin

Occasional (5-29%)HP:0000952

Breast carcinoma

Very rare (1-4%)HP:0003002

Endometrial carcinoma

Very rare (1-4%)HP:0012114

Neonatal sepsis

Very rare (1-4%)HP:0040187

Adrenogenital syndrome

HP:0000840

Congenital adrenal hyperplasia

HP:0008258

Hypospadias

HP:0000047

Salt wasting

HP:0000127

Related Conditions

Enzymopathy(parent)

CAH - desmolase deficiency(parent)

Inborn error of metabolism(parent)

Quick Facts

SNOMED CT: 44231009
UMLS CUI: C0342474
Fully Specified Name: Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 29

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.