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Congenital cataract, nephropathy, encephalopathy syndrome

disorder

SNOMED 722381004CUI C0795914

Overview

Congenital cataract, nephropathy, encephalopathy 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.

Cataract, congenital

Always present (100%)HP:0000519

Cerebellar dysplasia

Always present (100%)HP:0007033

Decreased size of cranium

Always present (100%)HP:0000252

Global developmental delay, severe

Always present (100%)HP:0011344

Renal tubular epithelial necrosis

Always present (100%)HP:0008682

Decreased body height

Very frequent (80-99%)HP:0004322

Epilepsy

Very frequent (80-99%)HP:0001250

Lens opacities

Very frequent (80-99%)HP:0000518

Nonprogressive mental retardation

Very frequent (80-99%)HP:0001249

Renal tubular defect

Very frequent (80-99%)HP:0000124

Involuntary, rapid, rhythmic eye movements

Frequent (30-79%)HP:0000639

Related Conditions

Congenital cataract(parent)

Multiple system malformation syndrome(parent)

Recessive hereditary disorder (autosomal)(parent)

Renal tubular disorder(parent)

Small stature(parent)

Hereditary disorder of nervous system(parent)

Hereditary disorder of the visual system(parent)

Necrosis of cortex of kidney(parent)

Hereditary nephropathy(parent)

Congenital anomaly of the kidney(parent)

Developmental hereditary disorder(parent)

Brain tissue injury(parent)

Injury of lens(parent)

Abnormality of nephron morphology(parent)

Quick Facts

SNOMED CT: 722381004
UMLS CUI: C0795914
Fully Specified Name: Congenital cataract, nephropathy, encephalopathy syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 11

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.