Neonatal severe primary hyperparathyroidism
ORPHA:417· ICD-10 E21.0
Definition
Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive, Not applicable
- Age of onset
- Neonatal