Autosomal dominant limb girdle muscular dystrophy type 1G

disorder

SNOMED 719990003CUI C1836765

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Cataract

HP:0000518

Decreased movement range in interphalangeal joints

HP:0006203

Elevated circulating creatine phosphokinase

HP:0003236

Flexion limitation of toes

HP:0008116

Hip-girdle muscle weakness

HP:0003749

Hyporeflexia

HP:0001265

limb girdle muscular dystrophy

HP:0006785

Myopathy

HP:0003198

Proximal lower limb muscle atrophy

HP:0008956

Proximal upper limb amyotrophy

HP:0008948

Rimmed vacuoles

HP:0003805

Shoulder girdle muscle weakness

HP:0003547

Related Conditions

Autosomal dominant muscular dystrophy with limb girdle distribution(parent)

Quick Facts

SNOMED CT: 719990003
UMLS CUI: C1836765
Fully Specified Name: Autosomal dominant limb girdle muscular dystrophy type 1G (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 12

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.