Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome

disorder

SNOMED 718713000CUI C4305259

Overview

Hypertrophic cardiomyopathy with hypotonia and lactic acidosis 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.

Cardiomyopathy, hypertrophic

Very frequent (80-99%)HP:0001639

Central hypotonia

Very frequent (80-99%)HP:0001252

Increased blood lactate

Very frequent (80-99%)HP:0002151

Lacticacidosis

Very frequent (80-99%)HP:0003128

Metabolic acidosis

Very frequent (80-99%)HP:0001942

Mitochondrial abnormalities

Very frequent (80-99%)HP:0012103

Blue discoloration of the skin

Frequent (30-79%)HP:0000961

Low-output congestive heart failure

Frequent (30-79%)HP:0009805

Myopathy

Frequent (30-79%)HP:0003198

Poor weight gain

Frequent (30-79%)HP:0001508

Laboured breathing

Occasional (5-29%)HP:0002098

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Congenital anomaly of skeletal muscle(parent)

Lactic acidosis(parent)

Cardiovascular system hereditary disorder(parent)

Hereditary disorder of musculoskeletal system(parent)

Hypertrophic mitochondrial cardiomyopathy(parent)

Congenital anomaly of myocardium(parent)

Developmental hereditary disorder(parent)

Secondary myopathy(parent)

Quick Facts

SNOMED CT: 718713000
UMLS CUI: C4305259
Fully Specified Name: Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.