Preaxial polydactyly, colobomata, intellectual disability syndrome

disorder

SNOMED 733088002CUI C2931655

Overview

Preaxial polydactyly, colobomata, intellectual disability 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.

Chorioretinal coloboma

Frequent (30-79%)HP:0000567

Hole in the back of the eye

Frequent (30-79%)HP:0000480

Mental-retardation

Frequent (30-79%)HP:0001249

Polydactyly, preaxial

Frequent (30-79%)HP:0100258

Psychomotor development deficiency

Frequent (30-79%)HP:0001263

Moderate vision loss

Occasional (5-29%)HP:0030515

Primary angle closure glaucoma

Occasional (5-29%)HP:0012109

Severely impaired vision

Occasional (5-29%)HP:0001141

Squint

Occasional (5-29%)HP:0000486

Related Conditions

Multiple malformation syndrome with limb defect as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Congenital ocular coloboma(parent)

Hereditary disorder of the visual system(parent)

Radial polydactyly(parent)

Developmental hereditary disorder(parent)

Genetic intellectual disability(parent)

Quick Facts

SNOMED CT: 733088002
UMLS CUI: C2931655
Fully Specified Name: Preaxial polydactyly, colobomata, intellectual disability syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 9

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.