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Autosomal recessive infantile hypercalcaemia
disorderSNOMED 771445001CUI C4329374
Overview
Autosomal recessive infantile hypercalcaemia 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.
Decreased serum PTH
Always present (100%)HP:0031817
Hypercalcemia
Always present (100%)HP:0003072
Hypercalciuria
Always present (100%)HP:0002150
Medullary nephrocalcinosis
Always present (100%)HP:0012408
Central hypotonia
Frequent (30-79%)HP:0001252
Increased urine output
Frequent (30-79%)HP:0000103
Postnatal failure to thrive
Frequent (30-79%)HP:0001508
Kidney stones
Occasional (5-29%)HP:0000787
Dehydration
HP:0001944
Increased calcium level in kidney
HP:0000121
Languor
HP:0001254
Vomiting
HP:0002013
Weight loss
HP:0001824
Quick Facts
- SNOMED CT
- 771445001
- UMLS CUI
- C4329374
- Fully Specified Name
- Autosomal recessive infantile hypercalcemia (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.