Autism spectrum disorder, epilepsy, arthrogryposis syndrome

disorder

SNOMED 733623005CUI C4518080

Overview

Autism spectrum disorder, epilepsy, arthrogryposis 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.

ASD

Always present (100%)HP:0000729

Dislocations of the knees

Frequent (30-79%)HP:0004976

Mental retardation, mild

Frequent (30-79%)HP:0001256

Cobb angle greater than ten degrees

Occasional (5-29%)HP:0002650

Developmental dysplasia of the hip

Occasional (5-29%)HP:0001385

Dislocated femoral heads

Occasional (5-29%)HP:0002827

Generalized non-motor (absence) seizure

Occasional (5-29%)HP:0002121

Hammertoe

Occasional (5-29%)HP:0001765

Mental retardation, severe

Occasional (5-29%)HP:0010864

Moderate mental retardation

Occasional (5-29%)HP:0002342

Related Conditions

Distal arthrogryposis syndrome(parent)

Epilepsy(parent)

Recessive hereditary disorder (autosomal)(parent)

Disorder of glycoprotein metabolism(parent)

Inherited metabolic disorder of nervous system(parent)

Inherited arthrogryposis(parent)

Pervasive developmental disorder(parent)

Quick Facts

SNOMED CT: 733623005
UMLS CUI: C4518080
Fully Specified Name: Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 10

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.