Ring chromosome 8 syndrome

disorder

SNOMED 715983001CUI C4274902

Overview

Ring chromosome 8 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 palate morphology

Very frequent (80-99%)HP:0000174

Abnormality of the ureter

Very frequent (80-99%)HP:0000069

Finger pointing in a different direction than usual

Very frequent (80-99%)HP:0004097

Frontal protuberance

Very frequent (80-99%)HP:0002007

High forehead

Very frequent (80-99%)HP:0000348

Hydramnios

Very frequent (80-99%)HP:0001561

Hydronephrosis

Very frequent (80-99%)HP:0000126

Low posterior hair line

Very frequent (80-99%)HP:0002162

Mental-retardation

Very frequent (80-99%)HP:0001249

Nostrils anteverted

Very frequent (80-99%)HP:0000463

Palpebronasal fold

Very frequent (80-99%)HP:0000286

Round ear

Very frequent (80-99%)HP:0100830

Sloping forehead

Very frequent (80-99%)HP:0000340

Small nose

Very frequent (80-99%)HP:0003196

Related Conditions

Anomaly of chromosome pair 8(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 715983001
UMLS CUI: C4274902
Fully Specified Name: Ring chromosome 8 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.