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Digital extensor muscle aplasia with polyneuropathy
disorderSNOMED 771261002CUI C2930955
Overview
Digital extensor muscle aplasia with polyneuropathy 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.
Absent/small skeletal muscles
Very frequent (80-99%)HP:0001460
Impaired pain sensation
Very frequent (80-99%)HP:0007328
Muscle wasting
Very frequent (80-99%)HP:0003202
Muscular dystrophy
Very frequent (80-99%)HP:0003560
Nerve conduction abnormalities
Very frequent (80-99%)HP:0040129
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Hypohidrosis
Frequent (30-79%)HP:0000966
Impaired temperature control
Frequent (30-79%)HP:0004370
Intolerance to heat and fevers
Frequent (30-79%)HP:0002046
Related Conditions
Hereditary motor and sensory neuropathy(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Myoneural disorder(parent)
Aplasia of muscle(parent)
Polyneuropathy(parent)
Developmental hereditary disorder(parent)
Congenital absence of part of upper limb(parent)
Congenital absence of skeletal muscle(parent)
Aplasia of limb(parent)
Quick Facts
- SNOMED CT
- 771261002
- UMLS CUI
- C2930955
- Fully Specified Name
- Digital extensor muscle aplasia with polyneuropathy (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 9
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.