Hyperphosphataemic familial tumoural calcinosis

disorder

SNOMED 860796007CUI C1876187

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Bone overgrowth

Always present (100%)HP:0100774

High blood phosphate levels

Always present (100%)HP:0002905

Increased serum calcitriol

Always present (100%)HP:0031415

Calcinosis

Frequent (30-79%)HP:0003761

Conjunctival whitish salt-like deposits

HP:0007799

Decreased renal tubular phosphate excretion

HP:0005572

Elevated alkaline phosphatase

Excluded (<1%)HP:0003155

Hypercalcemia

Excluded (<1%)HP:0003072

Hyperparathyroidism

Excluded (<1%)HP:0000843

Increased calcium level in kidney

HP:0000121

Increased percent tubular reabsorption of phosphorus

HP:0005571

Knapp streaks

HP:0001102

Periosteal reaction

HP:0031485

Taurodont

HP:0000679

Thin dental enamel

HP:0006297

True denticles

HP:0003771

Vascular calcification

HP:0004934

Related Conditions

Tumoral calcinosis(parent)

Quick Facts

SNOMED CT: 860796007
UMLS CUI: C1876187
Fully Specified Name: Hyperphosphatemic familial tumoral calcinosis (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 17

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.