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Hirschsprung disease with deafness and polydactyly syndrome

disorder

SNOMED 721221000CUI C2931452

Overview

Hirschsprung disease with deafness and polydactyly 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.

Aganglionic megacolon

Very frequent (80-99%)HP:0002251

Polydactyly of the foot

Very frequent (80-99%)HP:0001829

Dull intelligence

Frequent (30-79%)HP:0001249

Increased distance between eyes

Frequent (30-79%)HP:0000316

Postaxial hand polydactyly

Frequent (30-79%)HP:0001162

Renal aplasia

Frequent (30-79%)HP:0000104

Sensorineural deafness

Frequent (30-79%)HP:0000407

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Aganglionic megacolon(parent)

Hearing loss associated with syndrome(parent)

Digestive system hereditary disorder(parent)

Accessory digit(parent)

Inherited autonomic nervous system disorder(parent)

Congenital dilatation of colon(parent)

Congenital hearing disorder(parent)

Developmental hereditary disorder(parent)

Autonomic neuropathy(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 721221000
UMLS CUI: C2931452
Fully Specified Name: Hirschsprung disease with deafness and polydactyly syndrome (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.