Enamel-renal syndrome

disorder

SNOMED 109477002CUI C2931783

Overview

Enamel-renal 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.

Delayed eruption of permanent teeth

Always present (100%)HP:0000696

Abnormal Ca2+ PO4 regulating hormone level

Very frequent (80-99%)HP:0100530

Abnormal tooth enamel

Very frequent (80-99%)HP:0000682

Abnormality of dental color

Very frequent (80-99%)HP:0011073

Amelogenesis imperfecta

Very frequent (80-99%)HP:0000705

Delayed eruption of teeth

Very frequent (80-99%)HP:0000684

Gingival overgrowth

Very frequent (80-99%)HP:0000212

Increased calcium level in kidney

Very frequent (80-99%)HP:0000121

Increased circulating osteocalcin level

Very frequent (80-99%)HP:0031428

Kidney disease

Very frequent (80-99%)HP:0000112

Yellow-brown discolored teeth

Very frequent (80-99%)HP:0006286

Elevated alkaline phosphatase

Frequent (30-79%)HP:0003155

Enuresis

Frequent (30-79%)HP:0000805

Hypocitraturia

Frequent (30-79%)HP:0012405

Idiopathic gingival hyperplasia

Frequent (30-79%)HP:0000169

Impacted tooth

Frequent (30-79%)HP:0011079

Low urine calcium levels

Frequent (30-79%)HP:0003127

Low urine phosphate levels

Frequent (30-79%)HP:0012365

Renal failure

Frequent (30-79%)HP:0000083

True denticles

Frequent (30-79%)HP:0003771

Urine concentrating defect

Frequent (30-79%)HP:0004727

Anterior open bite between upper and lower teeth

Occasional (5-29%)HP:0009102

Decreased serum creatinine

Occasional (5-29%)HP:0012101

Dental agenesis

Occasional (5-29%)HP:0009804

Gum disease

Occasional (5-29%)HP:0000704

Lingual hyperplasia

Occasional (5-29%)HP:0000158

Increased tooth count

Very rare (1-4%)HP:0011069

Curved dental root

HP:4000104

Dagger shaped pulp stones

HP:0006302

General overgrowth

HP:0001548

Related Conditions

Amelogenesis imperfecta(parent)

Renal failure syndrome(parent)

Hereditary nephropathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Nephrocalcinosis(parent)

Quick Facts

SNOMED CT: 109477002
UMLS CUI: C2931783
Fully Specified Name: Enamel-renal 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.