Ring chromosome 21 syndrome

disorder

SNOMED 31325007CUI C0265487

Overview

Ring chromosome 21 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.

Deformity of face

Very frequent (80-99%)HP:0001999

Amenorrhea

Frequent (30-79%)HP:0000141

Decreased size of cranium

Frequent (30-79%)HP:0000252

Dull intelligence

Frequent (30-79%)HP:0001249

Electroencephalogram abnormal

Frequent (30-79%)HP:0002353

Epilepsy

Frequent (30-79%)HP:0001250

Infertility

Frequent (30-79%)HP:0000789

Mental and motor retardation

Frequent (30-79%)HP:0001263

Abnormality of the chest

Occasional (5-29%)HP:0000765

Azoospermia

Occasional (5-29%)HP:0000027

Bilateral tonic-clonic seizure with generalized onset

Occasional (5-29%)HP:0025190

Cardiac anomaly

Occasional (5-29%)HP:0001627

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Curvature of digit

Occasional (5-29%)HP:0030084

Cutaneous photosensitivity

Occasional (5-29%)HP:0000992

Decreased body height

Occasional (5-29%)HP:0004322

Decreased serum immunoglobulin

Occasional (5-29%)HP:0004313

Diabetes insipidus

Occasional (5-29%)HP:0000873

Disproportionately small hands

Occasional (5-29%)HP:0200055

Fused thoracic vertebrae

Occasional (5-29%)HP:0030039

Gait disturbance

Occasional (5-29%)HP:0001288

Involuntary muscle stiffness, contraction, or spasm

Occasional (5-29%)HP:0001257

Multiple birthmarks

Occasional (5-29%)HP:0007565

Myoclonic epilepsy, progressive

Occasional (5-29%)HP:0002123

Narrow palm

Occasional (5-29%)HP:0004283

Simple febrile seizures

Occasional (5-29%)HP:0011171

Single brain ventricle

Occasional (5-29%)HP:0001360

Speech delay

Occasional (5-29%)HP:0000750

Syndactyly

Occasional (5-29%)HP:0001159

Thoracic hemivertebrae

Occasional (5-29%)HP:0008467

Related Conditions

Anomaly of chromosome pair 21(parent)

Ring chromosome(parent)

Multiple system malformation syndrome(parent)

Quick Facts

SNOMED CT: 31325007
UMLS CUI: C0265487
Fully Specified Name: Ring chromosome 21 syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

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.