Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome

disorder

SNOMED 722459008CUI C2931285

Overview

Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome 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 vertebral bodies

Very frequent (80-99%)HP:0003312

Behavioral symptoms

Very frequent (80-99%)HP:0000708

Decreased activity of gonads

Very frequent (80-99%)HP:0000135

Decreased fertility

Very frequent (80-99%)HP:0000144

Decreased testicular size

Very frequent (80-99%)HP:0008734

Eunuchoid habitus

Very frequent (80-99%)HP:0003782

Gynaecomastia

Very frequent (80-99%)HP:0000771

Hemivertebra

Very frequent (80-99%)HP:0002937

Hypoplasia of penis

Very frequent (80-99%)HP:0008736

Mental-retardation

Very frequent (80-99%)HP:0001249

NIDDM

Very frequent (80-99%)HP:0005978

Smaller than typical growth of scrotum

Very frequent (80-99%)HP:0000046

Abnormality of the humeroulnar joint

Frequent (30-79%)HP:0100745

Abnormality of the thyroid gland

Frequent (30-79%)HP:0000820

Decreased body height

Frequent (30-79%)HP:0004322

Obesity

Frequent (30-79%)HP:0001513

Rib anomalies

Frequent (30-79%)HP:0000772

Short neck

Frequent (30-79%)HP:0000470

Sparse body hair

Frequent (30-79%)HP:0002231

Related Conditions

Congenital anomaly of skeletal bone(parent)

Multiple system malformation syndrome(parent)

X-linked hereditary disease(parent)

Hereditary disorder of endocrine system(parent)

Hereditary disorder of musculoskeletal system(parent)

Reproductive system hereditary disorder(parent)

Primary testicular failure(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 722459008
UMLS CUI: C2931285
Fully Specified Name: Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.