Autosomal recessive distal spinal muscular atrophy type 3

disorder

SNOMED 770430000CUI C1846823

Overview

Autosomal recessive distal spinal muscular atrophy type 3 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.

Decreased vital capacity

HP:0002792

Diminished diaphragmatic motion

HP:0009113

Distal muscle atrophy, upper and lower limbs

HP:0003693

Distal muscle weakness in lower limbs

HP:0009053

EMG: neuropathic changes

HP:0003445

Interosseous muscular atrophy

HP:0007181

Prominent swayback

HP:0003307

Spinal muscle wasting

HP:0007269

Related Conditions

Autosomal recessive distal hereditary motor neuropathy(parent)

Quick Facts

SNOMED CT: 770430000
UMLS CUI: C1846823
Fully Specified Name: Autosomal recessive distal spinal muscular atrophy type 3 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.