Overview
Neonatal severe primary 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.
Abnormal Ca2+ PO4 regulating hormone level
Very frequent (80-99%)HP:0100530
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Abnormal urinary amino-acid findings
Very frequent (80-99%)HP:0003355
Abnormality of the thyroid gland
Very frequent (80-99%)HP:0000820
Decreased body height
Very frequent (80-99%)HP:0004322
Enlarged liver
Very frequent (80-99%)HP:0002240
Large spleen
Very frequent (80-99%)HP:0001744
Low chest circumference
Very frequent (80-99%)HP:0000774
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Varying degree of multiple fractures
Very frequent (80-99%)HP:0002757
Calcinosis
HP:0003761
Difficulty breathing
HP:0002094
Dyschezia
HP:0002019
Extreme thirst
HP:0001959
Feeding difficulties in infancy
HP:0008872
Generalised decreased muscle tone
HP:0001290
Hypercalcemia
HP:0003072
Hypercalciuria
HP:0002150
Hyperphosphaturia
HP:0003109
Hypophosphataemia
HP:0002148
Increased serum parathyroid hormone
HP:0003165
Increased urine output
HP:0000103
Irregular metaphyses
HP:0003025
Low number of red blood cells or haemoglobin
HP:0001903
Postnatal failure to thrive
HP:0001508
Primary hyperparathyroidism
HP:0008200
Tachypnea
HP:0002789
Related Conditions
Quick Facts
- SNOMED CT
- 715218009
- UMLS CUI
- C1832615
- Fully Specified Name
- Neonatal severe primary hyperparathyroidism (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 27
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.