Ring chromosome 19 syndrome

disorder

SNOMED 765484001CUI C0795869

Overview

Ring chromosome 19 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.

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Cognitive delay

Occasional (5-29%)HP:0001263

Convex bridge of nose

Occasional (5-29%)HP:0000426

Decreased projection of mandible

Occasional (5-29%)HP:0000347

Decreased size of cranium

Occasional (5-29%)HP:0000252

Delayed gross motor development

Occasional (5-29%)HP:0002194

Depressed philtrum

Occasional (5-29%)HP:0002002

Foot, talipes equinovarus

Occasional (5-29%)HP:0001762

Growth failure

Occasional (5-29%)HP:0001510

Hanging skin

Occasional (5-29%)HP:0000973

Hearing impairment

Occasional (5-29%)HP:0000365

Increased distance between eyes

Occasional (5-29%)HP:0000316

Low-set ears

Occasional (5-29%)HP:0000369

Mental-retardation

Occasional (5-29%)HP:0001249

Posteriorly angulated ears

Occasional (5-29%)HP:0000358

Protruding forehead

Occasional (5-29%)HP:0011220

Related Conditions

Anomaly of chromosome pair 19(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 765484001
UMLS CUI: C0795869
Fully Specified Name: Ring chromosome 19 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 16

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.