Autosomal recessive infantile hypercalcaemia

disorder

SNOMED 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

Related Conditions

Recessive hereditary disorder (autosomal)(parent)

Infantile hypercalcemia(parent)

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.