Overview
Familial isolated hypoparathyroidism 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.
Abnormal Ca2+ PO4 regulating hormone level
Very frequent (80-99%)HP:0100530
Hypoparathyroidism
Very frequent (80-99%)HP:0000829
Low blood calcium levels
Very frequent (80-99%)HP:0002901
Myopathy
Very frequent (80-99%)HP:0003198
Seizures
Very frequent (80-99%)HP:0001250
Abnormal deposits of calcium in the brain
Frequent (30-79%)HP:0002514
Cardiac arrhythmias
Frequent (30-79%)HP:0011675
Cataract
Frequent (30-79%)HP:0000518
Defective tooth enamel
Frequent (30-79%)HP:0000682
Delayed eruption of teeth
Frequent (30-79%)HP:0000684
High blood phosphate levels
Frequent (30-79%)HP:0002905
Hypocalcemic tetany
Frequent (30-79%)HP:0003472
Muscle spasm
Frequent (30-79%)HP:0003394
Muscle weakness
Frequent (30-79%)HP:0001324
Cerebellar calcifications
Occasional (5-29%)HP:0007352
Decreased body height
Occasional (5-29%)HP:0004322
Globus pallidus calcification
Occasional (5-29%)HP:0031627
Kidney disease
Occasional (5-29%)HP:0000112
Laryngospasm
Occasional (5-29%)HP:0025425
Quick Facts
- SNOMED CT
- 725036000
- UMLS CUI
- C1832648
- Fully Specified Name
- Familial isolated hypoparathyroidism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 19
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.