Familial incomplete male pseudohermaphroditism type 2

disorder

SNOMED 738771004CUI 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

Abnormality of the hair shaft

HP:0001595

Laboratory abnormality

HP:0001939

Short penis

HP:0000054

Voice abnormality

HP:0001608

Related Conditions

Male pseudohermaphroditism(parent)

Quick Facts

SNOMED CT: 738771004
UMLS CUI: C0268297
Fully Specified Name: Male pseudohermaphroditism due to 5-alpha-reductase 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.