Autosomal dominant congenital benign spinal muscular atrophy

disorder

SNOMED 763067000CUI C1838492

Overview

Autosomal dominant congenital benign spinal muscular atrophy 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.

Areflexia

Always present (100%)HP:0001284

Distal muscle weakness in lower limbs

Always present (100%)HP:0009053

Lower limb degeneration

Always present (100%)HP:0008944

Cachexia

Very frequent (80-99%)HP:0004326

Nonprogressive muscular atrophy

Very frequent (80-99%)HP:0008964

Peripheral hypotonia

Very frequent (80-99%)HP:0001252

Stiff joint

Very frequent (80-99%)HP:0001387

Arthrogryposis multiplex

Frequent (30-79%)HP:0002804

Scoliosis

Frequent (30-79%)HP:0002650

Decreased fetal movement

HP:0001558

Distal limb muscle weakness due to peripheral neuropathy

HP:0002460

Distal muscle atrophy, upper and lower limbs

HP:0003693

Dropped arches

HP:0001763

Elevated serum creatine phosphokinase

HP:0003236

Fixed flexion at the elbow joint

HP:0002987

Flexion contractures of hips

HP:0003273

Foot, talipes equinovarus

HP:0001762

Hunched back

HP:0002808

Hyporeflexia

HP:0001265

Inability to straighten knee

HP:0006380

Prominent swayback

HP:0003307

Proximal lower limb muscle atrophy

Excluded (<1%)HP:0008956

Spinal muscle wasting

HP:0007269

Related Conditions

Congenital disease(parent)

Distal spinal muscular atrophy(parent)

Autosomal dominant distal hereditary motor neuropathy(parent)

Quick Facts

SNOMED CT: 763067000
UMLS CUI: C1838492
Fully Specified Name: Autosomal dominant congenital benign spinal muscular atrophy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 23

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.