Waardenburg syndrome co-occurrent with Hirschsprung disease

disorder

SNOMED 715952000CUI C1848519

Overview

Waardenburg syndrome co-occurrent with Hirschsprung disease 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.

Abnormality of the eyebrow

Very frequent (80-99%)HP:0000534

Abnormality of the intestine

Very frequent (80-99%)HP:0002242

Abnormality of the macula

Very frequent (80-99%)HP:0001103

Abnormality of vision

Very frequent (80-99%)HP:0000504

Aganglionic megacolon

Very frequent (80-99%)HP:0002251

Blonde eyelashes

Very frequent (80-99%)HP:0002227

Bowel obstruction

Very frequent (80-99%)HP:0005214

Dyschezia

Very frequent (80-99%)HP:0002019

Eye disease

Very frequent (80-99%)HP:0000478

Grey eyebrow

Very frequent (80-99%)HP:0002226

Hypoacusis

Very frequent (80-99%)HP:0000365

Hypopigmentation of hair

Very frequent (80-99%)HP:0005599

Poliosis of anterior hair

Very frequent (80-99%)HP:0002211

Premature graying of the hair

Very frequent (80-99%)HP:0002216

Abdominal discomfort

Frequent (30-79%)HP:0002027

Increased width of bridge of nose

Frequent (30-79%)HP:0000431

Nasal malformation

Frequent (30-79%)HP:0000366

Olfactory lobe absence

Frequent (30-79%)HP:0001341

Prominent nasal root

Frequent (30-79%)HP:0000426

Small nasal alae

Frequent (30-79%)HP:0000430

Unibrow

Frequent (30-79%)HP:0000664

Increased intercanthal distance

Occasional (5-29%)HP:0000506

Retinal pigmentary anomaly

Occasional (5-29%)HP:0007703

Ataxia

HP:0001251

Blue irides

HP:0000635

Central hypotonia

HP:0001252

Heterochromia iridis

HP:0001100

Hypopigmented skin patches

HP:0001053

Involuntary, rapid, rhythmic eye movements

HP:0000639

Leukodystrophy

HP:0002415

Related Conditions

Waardenburg's syndrome(parent)

Aganglionic megacolon(parent)

Digestive system hereditary disorder(parent)

Inherited autonomic nervous system disorder(parent)

Congenital sensorineural hearing loss(parent)

Autosomal hereditary disorder(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of the integument(parent)

Autonomic neuropathy(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 715952000
UMLS CUI: C1848519
Fully Specified Name: Waardenburg Shah syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.