Congenital cataract, hearing loss, severe developmental delay syndrome

disorder

SNOMED 773648002CUI C4751114

Overview

Congenital cataract, hearing loss, severe developmental delay 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.

Atrophic cerebellum

Always present (100%)HP:0001272

Cataract, congenital

Always present (100%)HP:0000519

CNS hypomyelination

Always present (100%)HP:0003429

Degeneration of cerebrum

Always present (100%)HP:0002059

Hypoacusis

Always present (100%)HP:0000365

Hypoceruloplasminemia

Always present (100%)HP:0010837

Inability to walk

Always present (100%)HP:0002540

No speech development

Always present (100%)HP:0001344

Reduced serum copper

Always present (100%)HP:0011967

Severe psychomotor retardation

Always present (100%)HP:0011344

Widened subarachnoid spaces

Always present (100%)HP:0012704

Epilepsy

Frequent (30-79%)HP:0001250

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Peripheral hypotonia

HP:0001252

Related Conditions

Hereditary disorder of the visual system(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Congenital cataract(parent)

Developmental delay(parent)

Congenital sensorineural hearing loss(parent)

Inherited metabolic disorder of nervous system(parent)

Disorder of ear(parent)

Developmental hereditary disorder(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 773648002
UMLS CUI: C4751114
Fully Specified Name: Congenital cataract, hearing loss, severe developmental delay syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

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.