Hereditary dysautonomia with motor neuropathy

disorder

SNOMED 230557001CUI C1854961

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.

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Achalasia

Very frequent (80-99%)HP:0002571

Hyporeflexia

Very frequent (80-99%)HP:0001265

Muscle wasting

Very frequent (80-99%)HP:0003202

Persistent blue colour of hands or feet

Very frequent (80-99%)HP:0001063

Profuse sweating

Very frequent (80-99%)HP:0000975

Stiff joint

Very frequent (80-99%)HP:0001387

Related Conditions

Hereditary sensory and autonomic neuropathy(parent)

Peripheral nerve disease(parent)

Recessive hereditary disorder (autosomal)(parent)

Autonomic neuropathy(parent)

Quick Facts

SNOMED CT: 230557001
UMLS CUI: C1854961
Fully Specified Name: Hereditary dysautonomia with motor neuropathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 7

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.