CK syndrome

disorder

SNOMED 773329005CUI C3151781

Overview

CK 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.

Abnormality of the cerebral cortex

Very frequent (80-99%)HP:0002538

Cerebral pachygyria

Very frequent (80-99%)HP:0001302

Convex bridge of nose

Very frequent (80-99%)HP:0000426

Difficulty finding words

Very frequent (80-99%)HP:0002381

High arched palate

Very frequent (80-99%)HP:0000218

Hypotrophic malar bone

Very frequent (80-99%)HP:0000272

Increased length of toes

Very frequent (80-99%)HP:0010511

Increased lumbar lordosis

Very frequent (80-99%)HP:0002938

Kyphoscoliosis

Very frequent (80-99%)HP:0002751

Long fingers

Very frequent (80-99%)HP:0100807

Mental-retardation

Very frequent (80-99%)HP:0001249

Mongoloid slant

Very frequent (80-99%)HP:0000582

Prostration

Very frequent (80-99%)HP:0025406

Psychomotor development deficiency

Very frequent (80-99%)HP:0001263

Retromicrognathia

Very frequent (80-99%)HP:0000308

Slender build

Very frequent (80-99%)HP:0001533

Speech and language difficulties

Very frequent (80-99%)HP:0000750

Trouble sleeping

Very frequent (80-99%)HP:0002360

Vertical enlargement of face

Very frequent (80-99%)HP:0000276

Behavioral changes

Frequent (30-79%)HP:0000708

physical aggression

Frequent (30-79%)HP:0000718

Abnormal compact bone morphology

HP:0003103

Abnormality of digit

HP:0011297

Almond shaped eyes

HP:0007874

Decreased size of cranium

HP:0000252

Decreased transverse dimension of face

HP:0000275

Generalised decreased muscle tone

HP:0001290

Hunched back

HP:0002808

hyperkinetic disorder

HP:0000752

Hypoplastic mandible condyle

HP:0000347

Related Conditions

Multiple system malformation syndrome(parent)

Inborn error of metabolism(parent)

Disorder of lipid metabolism(parent)

Developmental hereditary disorder(parent)

X-linked recessive hereditary disease(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 773329005
UMLS CUI: C3151781
Fully Specified Name: CK 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.