Familial isolated hyperparathyroidism

disorder

SNOMED 786037006CUI C4551961

Overview

Familial isolated hyperparathyroidism 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.

Calcium deposits in joints

Very frequent (80-99%)HP:0000934

Generalized osteoporosis with pathologic fractures

Very frequent (80-99%)HP:0040160

Hypercalcemia

Very frequent (80-99%)HP:0003072

Hypercalciuria

Very frequent (80-99%)HP:0002150

Hyperphosphaturia

Very frequent (80-99%)HP:0003109

Hypophosphataemia

Very frequent (80-99%)HP:0002148

Increased calcium level in kidney

Very frequent (80-99%)HP:0000121

Increased serum parathyroid hormone

Very frequent (80-99%)HP:0003165

Osteopenia

Very frequent (80-99%)HP:0000938

Parathyroid adenomas

Very frequent (80-99%)HP:0002897

Primary hyperparathyroidism

Very frequent (80-99%)HP:0008200

Abdominal symptom

Occasional (5-29%)HP:0011458

Renal insufficiency

Occasional (5-29%)HP:0000083

Related Conditions

Autosomal dominant hereditary disorder(parent)

Familial hyperparathyroidism(parent)

Hereditary disorder of endocrine system(parent)

Quick Facts

SNOMED CT: 786037006
UMLS CUI: C4551961
Fully Specified Name: Familial isolated hyperparathyroidism (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 13

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.