Nephropathy, deafness, hyperparathyroidism syndrome

disorder

SNOMED 724093004CUI C4518325

Overview

Nephropathy, deafness, hyperparathyroidism 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.

Sensorineural deafness

Very frequent (80-99%)HP:0000407

Bone cyst

Frequent (30-79%)HP:0012062

Glomerulopathy

Frequent (30-79%)HP:0100820

Hypercalcemia

Frequent (30-79%)HP:0003072

Hyperparathyroidism

Frequent (30-79%)HP:0000843

Proteinuria

Frequent (30-79%)HP:0000093

Renal failure in adulthood

Frequent (30-79%)HP:0000083

Decreased haemoglobin

Occasional (5-29%)HP:0001903

Related Conditions

Parathyroid hyperplasia(parent)

Sensorineural hearing loss(parent)

Recessive hereditary disorder (autosomal)(parent)

Hearing loss associated with syndrome(parent)

Hereditary disorder of endocrine system(parent)

Renal failure syndrome(parent)

Hereditary nephropathy(parent)

Hereditary hearing loss(parent)

Quick Facts

SNOMED CT: 724093004
UMLS CUI: C4518325
Fully Specified Name: Nephropathy, deafness, hyperparathyroidism syndrome (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 8

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.