Autosomal Recessive Infantile Hypercalcemia

Preferred Label : Autosomal Recessive Infantile Hypercalcemia;

NCIt related terms : Idiopathic Infantile Hypercalcemia;

Alternative definition : NICHD: A condition caused by autosomal recessive loss-of-function mutation(s) in the CYP24A1 or SLC34A1 gene, encoding mitochondrial 1,25-dihydroxyvitamin D(3) 24-hydroxylase, and sodium-dependent phosphate transport protein 2A, respectively. This condition is characterized by vomiting, polyuria, dehydration, and failure to thrive, accompanied by hypercalcemia, suppressed parathyroid hormone, and nephrocalcinosis.;

NCI Metathesaurus CUI : CL513022;

Details

Origin ID

C129734;

UMLS CUI

C4329374;

Currated CISMeF NLP mapping
- Autosomal recessive infantile hypercalcemia [ORDO Disease]
- Autosomal recessive infantile hypercalcemia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive infantile hypercalcemia (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
related_to_genetic_biomarker
- CYP24A1 Gene [NCIt concept]
- SLC34A1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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