3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency

disorder

SNOMED 57514000CUI C0268297

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.

Ambiguous external genitalia

Very frequent (80-99%)HP:0000062

Ambiguous genitalia in males

Very frequent (80-99%)HP:0000033

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased fertility

Very frequent (80-99%)HP:0000144

Endocrine system disease

Very frequent (80-99%)HP:0000818

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Perineal hypospadias

Very frequent (80-99%)HP:0000051

Scrotal cleft

Very frequent (80-99%)HP:0000048

Smaller than typical growth of scrotum

Very frequent (80-99%)HP:0000046

Urogenital sinus anomaly

Very frequent (80-99%)HP:0100779

Abnormal hair morphology

HP:0001595

Laboratory abnormality

HP:0001939

Short penis

HP:0000054

Voice abnormality

HP:0001608

Related Conditions

Inborn error of metabolism(parent)

Male pseudohermaphroditism(parent)

Enzymopathy(parent)

Reproductive system hereditary disorder(parent)

Hereditary disorder of the urinary system(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of male urogenital tract(parent)

Congenital anomaly of urethra(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 57514000
UMLS CUI: C0268297
Fully Specified Name: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.