Raynaud Claes syndrome

disorder

SNOMED 1172691004CUI C0796221

Overview

Raynaud Claes 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.

Dystonic movements

Always present (100%)HP:0001332

Epileptic encephalopathy

Always present (100%)HP:0200134

Peripheral hypotonia

Always present (100%)HP:0001252

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Abnormality of the cerebral white matter

Frequent (30-79%)HP:0002500

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Epilepsy

Frequent (30-79%)HP:0001250

Mental retardation, severe

Frequent (30-79%)HP:0010864

Moderate mental retardation

Frequent (30-79%)HP:0002342

Anxiety disease

Occasional (5-29%)HP:0000739

Autism spectrum disorder

Occasional (5-29%)HP:0000729

Autoagression

Occasional (5-29%)HP:0100716

Behavioural disorders

Occasional (5-29%)HP:0000708

Big calvaria

Occasional (5-29%)HP:0000256

Bipolar depression

Occasional (5-29%)HP:0007302

Cortical blindness

Occasional (5-29%)HP:0100704

Decreased size of cranium

Occasional (5-29%)HP:0000252

Delayed myelination

Occasional (5-29%)HP:0012448

Depressive episode

Occasional (5-29%)HP:0000716

Dilated cerebral ventricle

Occasional (5-29%)HP:0002119

EEG with focal spikes

Occasional (5-29%)HP:0011193

Feeding difficulties

Occasional (5-29%)HP:0011968

Focal tonic seizure

Occasional (5-29%)HP:0011167

Gastro-esophageal reflux

Occasional (5-29%)HP:0002020

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Generalized tonic-clonic seizure (without specification of onset)

Occasional (5-29%)HP:0002069

hyperkinetic disorder

Occasional (5-29%)HP:0000752

Hypoplasia of corpus callosum

Occasional (5-29%)HP:0002079

Hypotonia, early

Occasional (5-29%)HP:0008947

Infantile spasms

Occasional (5-29%)HP:0012469

Related Conditions

X-linked dominant hereditary disease(parent)

Developmental hereditary disorder(parent)

Hereditary disorder of nervous system(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 1172691004
UMLS CUI: C0796221
Fully Specified Name: Chloride voltage-gated channel 4-related X-linked intellectual disability 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.