Ring chromosome 18 syndrome

disorder

SNOMED 88154004CUI C0265475

Overview

Ring chromosome 18 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.

Cognitive delay

Frequent (30-79%)HP:0001263

Decreased body height

Frequent (30-79%)HP:0004322

Decreased size of cranium

Frequent (30-79%)HP:0000252

Intellectual impairment

Frequent (30-79%)HP:0100543

Poor school performance

Frequent (30-79%)HP:0001249

Abnormal internal genitalia

Occasional (5-29%)HP:0000812

Cleft lip

Occasional (5-29%)HP:0410030

Delayed myelination

Occasional (5-29%)HP:0012448

Fetal foot inversion

Occasional (5-29%)HP:0001762

Hypothyroidism

Occasional (5-29%)HP:0000821

Intrauterine growth retardation, IUGR

Occasional (5-29%)HP:0001511

Language impairment

Occasional (5-29%)HP:0002463

Peripheral hypotonia

Occasional (5-29%)HP:0001252

Seizures

Occasional (5-29%)HP:0001250

Related Conditions

Anomaly of chromosome pair 18(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 88154004
UMLS CUI: C0265475
Fully Specified Name: Ring chromosome 18 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.