Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland

disorder

SNOMED 717897007CUI C4305477

Overview

Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland 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.

Low blood calcium levels

Always present (100%)HP:0002901

Neonatal hypoparathyroidism

Always present (100%)HP:0008198

Parathyroid absence

Always present (100%)HP:0008211

High blood phosphate levels

Very frequent (80-99%)HP:0002905

Hypercalciuria

Very frequent (80-99%)HP:0002150

Seizures due to hypocalcemia

Very frequent (80-99%)HP:0002199

Male infertility

Frequent (30-79%)HP:0003251

Hypomagnesemia

Occasional (5-29%)HP:0002917

Related Conditions

Familial isolated hypoparathyroidism(parent)

Quick Facts

SNOMED CT: 717897007
UMLS CUI: C4305477
Fully Specified Name: Hereditary isolated hypoparathyroidism due to agenesis of parathyroid gland (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.