Hirschsprung disease, ganglioneuroblastoma syndrome

disorder

SNOMED 783737007CUI C5191058

Overview

Hirschsprung disease, ganglioneuroblastoma 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 pupil morphology

Very frequent (80-99%)HP:0000615

Aganglionic megacolon

Very frequent (80-99%)HP:0002251

Cardiac arrhythmias

Very frequent (80-99%)HP:0011675

Ganglioneuroblastoma

Very frequent (80-99%)HP:0006747

Long Q-T syndrome

Very frequent (80-99%)HP:0001657

Seizures

Very frequent (80-99%)HP:0001250

Sweating

Very frequent (80-99%)HP:0000975

Tumour of the nervous system

Very frequent (80-99%)HP:0004375

Related Conditions

Neoplastic disease(parent)

Congenital anomaly of large intestine(parent)

Genetic disease(parent)

Autonomic neuropathy(parent)

Congenital dilatation of intestinal tract(parent)

Dilatation of large intestine(parent)

Quick Facts

SNOMED CT: 783737007
UMLS CUI: C5191058
Fully Specified Name: Hirschsprung disease, ganglioneuroblastoma syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.