X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome

disorder

SNOMED 773587008CUI C4751008

Overview

X-linked intellectual disability, cardiomegaly, congestive heart failure 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.

Abnormality of the atrioventricular valves

Frequent (30-79%)HP:0006705

Abnormality of the thumbs

Frequent (30-79%)HP:0001172

Chronic heart failure

Frequent (30-79%)HP:0001635

Contractures of the large joints

Frequent (30-79%)HP:0005781

Epilepsy

Frequent (30-79%)HP:0001250

Increased heart size

Frequent (30-79%)HP:0001640

Intellectual disability, profound

Frequent (30-79%)HP:0002187

Large pinnae

Frequent (30-79%)HP:0000400

Mental and motor retardation

Frequent (30-79%)HP:0001263

No speech development

Frequent (30-79%)HP:0001344

Overfolded helix

Frequent (30-79%)HP:0000396

Aortic stenosis

Occasional (5-29%)HP:0001650

Atrial flutter

Occasional (5-29%)HP:0004749

Bulbous nasal tip

Occasional (5-29%)HP:0000414

Coarse face

Occasional (5-29%)HP:0000280

Convex bridge of nose

Occasional (5-29%)HP:0000426

Eclabium of lower lip

Occasional (5-29%)HP:0000232

Flat nasal bridge

Occasional (5-29%)HP:0005280

Flat philtrum

Occasional (5-29%)HP:0000319

Inability to walk

Occasional (5-29%)HP:0002540

Kyphoscoliosis

Occasional (5-29%)HP:0002751

Large testis

Occasional (5-29%)HP:0000053

Lingual protrusion

Occasional (5-29%)HP:0010808

Mandibular hyperplasia

Occasional (5-29%)HP:0000303

Mitral regurgitation

Occasional (5-29%)HP:0001653

Mitral valve prolapse

Occasional (5-29%)HP:0001634

Poor speech

Occasional (5-29%)HP:0002465

Spastic quadriplegia

Occasional (5-29%)HP:0002510

Steppage gait

Occasional (5-29%)HP:0003376

Tricuspid regurgitation

Occasional (5-29%)HP:0005180

Related Conditions

Cardiac arrhythmia associated with genetic disorder(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773587008
UMLS CUI: C4751008
Fully Specified Name: X-linked intellectual disability, cardiomegaly, congestive heart failure syndrome (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.