Hereditary sensory autonomic neuropathy type IIB

disorder

SNOMED 860810005CUI C2751092

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.

Acral ulceration

Always present (100%)HP:0006121

Acroosteolysis of distal phalanges (feet)

Always present (100%)HP:0001870

Frequent falls

Always present (100%)HP:0002359

Hyperactive deep tendon reflexes

Always present (100%)HP:0006801

Involuntary muscle stiffness, contraction, or spasm

Always present (100%)HP:0001257

Lower limb muscle weakness

Always present (100%)HP:0007340

Peripheral axonal neuropathy

Always present (100%)HP:0003477

Scissor gait

Always present (100%)HP:0012407

Delayed ability to walk

Frequent (30-79%)HP:0031936

Loss of distal sensation

Frequent (30-79%)HP:0002936

Absent tendon reflexes

HP:0001284

Autoamputation of digits

HP:0007460

Bone infection

HP:0002754

Episodic hyperhidrosis

HP:0001069

Extensor plantar responses

Excluded (<1%)HP:0003487

Hyporeflexia

HP:0001265

Osteolytic defects of the phalanges of the hand

HP:0009771

Urinary incontinence

HP:0000020

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Hereditary sensory and autonomic neuropathy type II(parent)

Quick Facts

SNOMED CT: 860810005
UMLS CUI: C2751092
Fully Specified Name: Hereditary sensory autonomic neuropathy type IIB (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 18

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.