Hirschsprung disease with type D brachydactyly syndrome

disorder

SNOMED 721222007CUI C4303481

Overview

Hirschsprung disease with type D brachydactyly 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

Aplastic/hypoplastic toenails

Very frequent (80-99%)HP:0010624

Brachydactyly

Frequent (30-79%)HP:0001156

Short bone of big toe

Frequent (30-79%)HP:0010111

Short distal phalanx of the thumb

Frequent (30-79%)HP:0009650

Small fingernail

Frequent (30-79%)HP:0001804

Related Conditions

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

Brachydactyly(parent)

Aganglionic megacolon(parent)

Digestive system hereditary disorder(parent)

Inherited autonomic nervous system disorder(parent)

Congenital dilatation of colon(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 721222007
UMLS CUI: C4303481
Fully Specified Name: Hirschsprung disease with type D brachydactyly syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 6

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.