Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome

disorder

SNOMED 719451006CUI C0796031

Overview

Dilated cardiomyopathy with hypergonadotropic hypogonadism 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.

Disease of the heart muscle

Always present (100%)HP:0001638

Finger joint contracture

Always present (100%)HP:0034681

Microtia

Always present (100%)HP:0008551

Mitral regurgitation, mild

Always present (100%)HP:0001653

Narrow nose

Always present (100%)HP:0000460

Poikiloderma

Always present (100%)HP:0001029

Poor wound healing

Always present (100%)HP:0001058

Recurrent shoulder dislocation

Always present (100%)HP:0031610

Sclerodactyly

Always present (100%)HP:0011838

Short chin

Always present (100%)HP:0000331

Teleangiectasia of the skin

Always present (100%)HP:0100585

Absent digital bone of the 3rd toe

Very frequent (80-99%)HP:0100362

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Precocious puberty

Very frequent (80-99%)HP:0000826

Primary hypogonadism

Very frequent (80-99%)HP:0000815

Sclerocystic ovaries

Very frequent (80-99%)HP:0000147

Eyelid ptosis

Occasional (5-29%)HP:0000508

Nonprogressive mental retardation

Occasional (5-29%)HP:0001249

Inability to make and keep healthy fat tissue

HP:0009125

Osteopenia

HP:0000938

Retrognathia

HP:0000278

Short clavicles

HP:0000894

Sloping shoulders

HP:0200021

Stretched and thinned heart muscle

HP:0001644

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of endocrine system(parent)

Reproductive system hereditary disorder(parent)

Primary hypogonadism(parent)

Congestive cardiomyopathy(parent)

Developmental hereditary disorder(parent)

Congenital anomaly of myocardium(parent)

Quick Facts

SNOMED CT: 719451006
UMLS CUI: C0796031
Fully Specified Name: Dilated cardiomyopathy with hypergonadotropic hypogonadism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 24

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.