Mixed gonadal dysgenesis

disorder

SNOMED 83579008CUI C0018055

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.

Cryptorchidism

Very frequent (80-99%)HP:0000028

Decreased body height

Very frequent (80-99%)HP:0004322

Muscle hypertrophy of the lower extremities

Very frequent (80-99%)HP:0008968

Unilateral cryptorchidism

Very frequent (80-99%)HP:0012741

Abnormal internal genitalia

Frequent (30-79%)HP:0000812

Ambiguous external genitalia

Frequent (30-79%)HP:0000062

Ambiguous genitalia in males

Frequent (30-79%)HP:0000033

Ambiguous genitalia, female

Frequent (30-79%)HP:0000061

Azoospermia

Frequent (30-79%)HP:0000027

Cryptorchidism, bilateral

Frequent (30-79%)HP:0008689

Gonadotropin excess

Frequent (30-79%)HP:0000837

Hypospadias

Frequent (30-79%)HP:0000047

Male infertility

Frequent (30-79%)HP:0003251

Penoscrotal hypospadias

Frequent (30-79%)HP:0000808

Short penis

Frequent (30-79%)HP:0000054

Urogenital sinus anomaly

Frequent (30-79%)HP:0100779

Abnormal scrotum morphology

Occasional (5-29%)HP:0000045

Abnormality of cardiovascular system morphology

Occasional (5-29%)HP:0030680

Acalculia

Occasional (5-29%)HP:0002442

Aortic coarctation

Occasional (5-29%)HP:0001680

ASD

Occasional (5-29%)HP:0000729

Bicuspid aortic valve

Occasional (5-29%)HP:0001647

Bunion

Occasional (5-29%)HP:0001822

Cervix cancer

Occasional (5-29%)HP:0030079

Chordee

Occasional (5-29%)HP:0000041

Decreased serum testosterone level

Occasional (5-29%)HP:0040171

Delayed puberty

Occasional (5-29%)HP:0000823

Delayed skeletal development

Occasional (5-29%)HP:0002750

Elevated heart rate

Occasional (5-29%)HP:0001649

Epispadias

Occasional (5-29%)HP:0000039

Related Conditions

Gonadal dysgenesis(parent)

Sex chromosome mosaicism(parent)

Genetic disease(parent)

Anomaly of chromosome Y(parent)

Quick Facts

SNOMED CT: 83579008
UMLS CUI: C0018055
Fully Specified Name: Mixed gonadal dysgenesis (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.