Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease

disorder

SNOMED 1230303001CUI C1849813

Overview

Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 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.

Increased myocardial glycogen content

Always present (100%)HP:0034532

Heart failure

Very frequent (80-99%)HP:0001635

Bradycardia

Frequent (30-79%)HP:0001662

Enlarged kidney

Frequent (30-79%)HP:0000105

Feet or buttocks of fetus positioned near opening of uterus

Frequent (30-79%)HP:0001623

Fluid around lungs

Frequent (30-79%)HP:0002202

Hypotension

Frequent (30-79%)HP:0002615

Increased heart size

Frequent (30-79%)HP:0001640

Lingual hyperplasia

Frequent (30-79%)HP:0000158

Shortened PR interval on EKG

Frequent (30-79%)HP:0005165

ST segment elevation

Frequent (30-79%)HP:0012251

Anasarca

Occasional (5-29%)HP:0012050

Apnea

Occasional (5-29%)HP:0002104

Ascites

Occasional (5-29%)HP:0001541

Biventricular hypertrophy

Occasional (5-29%)HP:0200128

Cardiomyopathy, hypertrophic

Occasional (5-29%)HP:0001639

Cataract

Occasional (5-29%)HP:0000518

EEG with burst suppression

Occasional (5-29%)HP:0010851

EKG: T-wave inversion

Occasional (5-29%)HP:0010872

Excess fluid in lungs

Occasional (5-29%)HP:0100598

Feeding difficulties

Occasional (5-29%)HP:0011968

Intraventricular conduction delay

Occasional (5-29%)HP:0006677

Laboured breathing

Occasional (5-29%)HP:0002098

Left axis deviation

Occasional (5-29%)HP:0033568

Nonsyndromal hydrocephalus

Occasional (5-29%)HP:0000238

Pericardial effusions

Occasional (5-29%)HP:0001698

Peripheral edema

Occasional (5-29%)HP:0012398

Seizures

Occasional (5-29%)HP:0001250

ST segment depression

Occasional (5-29%)HP:0012250

Ventricular fibrillation

Occasional (5-29%)HP:0001663

Related Conditions

Autosomal dominant hereditary disorder(parent)

Congenital anomaly of myocardium(parent)

Glycogen storage disease(parent)

Cardiovascular system hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hypertrophic cardiomyopathy due to glycogen storage disease(parent)

Quick Facts

SNOMED CT: 1230303001
UMLS CUI: C1849813
Fully Specified Name: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease (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.