Deafness, small bowel diverticulosis, neuropathy syndrome

disorder

SNOMED 733071009CUI C1857338

Overview

Deafness, small bowel diverticulosis, neuropathy syndrome 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.

Abnormal electromyography finding

Very frequent (80-99%)HP:0003457

Cachexia

Very frequent (80-99%)HP:0004326

Chronic diarrhoea

Very frequent (80-99%)HP:0002028

Duodenal ulcer

Very frequent (80-99%)HP:0002588

Fat in feces

Very frequent (80-99%)HP:0002570

Intestinal malabsorption

Very frequent (80-99%)HP:0002024

Paralysis on one side of body

Very frequent (80-99%)HP:0002301

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Abnormal vocalization

Frequent (30-79%)HP:0002167

Abnormality of the pharynx

Frequent (30-79%)HP:0000600

Eyelid ptosis

Frequent (30-79%)HP:0000508

Hyporeflexia

Frequent (30-79%)HP:0001265

Brachydactyly

Occasional (5-29%)HP:0001156

Cutaneous photosensitivity

Occasional (5-29%)HP:0000992

Eye movement issue

Occasional (5-29%)HP:0000496

Short palm

Occasional (5-29%)HP:0004279

Fat malabsorption

HP:0002630

Hypoproteinemia

HP:0003075

Jejunoileal ulceration

HP:0005229

Neuropathy

HP:0009830

Racing heart

HP:0001649

Small bowel diverticula

HP:0002256

Related Conditions

Hereditary sensory neuropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Disorder of gastrointestinal tract(parent)

Hearing loss associated with syndrome(parent)

Digestive system hereditary disorder(parent)

Congenital sensorineural hearing loss(parent)

Peripheral sensory neuropathy(parent)

Disorder of ear(parent)

Disorder of digestive system specific to fetus OR newborn(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 733071009
UMLS CUI: C1857338
Fully Specified Name: Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

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.