Oculogastrointestinal neurodevelopmental syndrome

disorder

SNOMED 1356735003CUI C5543355

Overview

Oculogastrointestinal neurodevelopmental 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.

Notched pupil

Very frequent (80-99%)HP:0000589

Absent anus

Frequent (30-79%)HP:0002023

ASD

Frequent (30-79%)HP:0000729

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Simple ear

Frequent (30-79%)HP:0020206

Bicuspid aortic valve

Occasional (5-29%)HP:0001647

Bilateral nanophthalmos

Occasional (5-29%)HP:0007633

Columella extends below the ala nasi

Occasional (5-29%)HP:0009765

Decreased body height

Occasional (5-29%)HP:0004322

Decreased size of cranium

Occasional (5-29%)HP:0000252

Dysphonia

Occasional (5-29%)HP:0001618

Fused kidneys

Occasional (5-29%)HP:0000085

Hemivertebra

Occasional (5-29%)HP:0002937

Hirsutism

Occasional (5-29%)HP:0001007

Laryngotracheal cleft

Occasional (5-29%)HP:0008751

Sacral dimple

Occasional (5-29%)HP:0000960

Unilateral microphthalmos

Occasional (5-29%)HP:0011480

Unilateral ptosis

Occasional (5-29%)HP:0007687

Vaginal fistula

Occasional (5-29%)HP:0004320

Related Conditions

Global developmental delay(parent)

Neurodevelopmental disorder(parent)

Genetic disease(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 1356735003
UMLS CUI: C5543355
Fully Specified Name: Oculogastrointestinal neurodevelopmental syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.