Ring chromosome 6 syndrome

disorder

SNOMED 765488003CUI C0795814

Overview

Ring chromosome 6 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.

Broad flat nasal bridge

Very frequent (80-99%)HP:0000431

Decreased body height

Very frequent (80-99%)HP:0004322

Decreased size of cranium

Very frequent (80-99%)HP:0000252

Distal phalangeal hypoplasia

Very frequent (80-99%)HP:0009882

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Large ears

Very frequent (80-99%)HP:0000400

Low posterior hair line

Very frequent (80-99%)HP:0002162

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Respiratory insufficiency

Very frequent (80-99%)HP:0002093

Short neck

Very frequent (80-99%)HP:0000470

Urogenital fistula

Very frequent (80-99%)HP:0100589

Related Conditions

Anomaly of chromosome pair 6(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 765488003
UMLS CUI: C0795814
Fully Specified Name: Ring chromosome 6 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.