Hereditary Hypophosphatemic Rickets with Hypercalciuria

Preferred Label : Hereditary Hypophosphatemic Rickets with Hypercalciuria;

NCIt related terms : Hypophosphatemic Hypercalciuric Rickets; Hypercalciuric Hypophosphatemic Rickets; HHRH;

Alternative definition : NICHD: An autosomal recessive form of hypophosphatemic rickets caused by inactivating mutation(s) in the SLC34A3 gene, encoding sodium-dependent phosphate transport protein 2C, a protein involved in maintenance of inorganic phosphate concentration in the kidney. The condition is characterized by elevated 1,25-dihydroxyvitamin D (calcitriol) concentrations, resulting in increased intestinal calcium absorption and hypercalciuria. This form of hypophosphatemic rickets is also distinguished by the lack of elevated fibroblast growth factor 23 (FGF23) concentrations.;

Details

Origin ID

C131450;

UMLS CUI

C1853271;

Currated CISMeF NLP mapping
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
- Hereditary hypophosphatemic rickets with hypercalciuria (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets with hypercalciuria, hereditary [OMIM Phenotype]
- hereditary hypophosphatemic rickets with hypercalciuria [DO Concept]
- hereditary hypophosphatemic rickets with hypercalciuria [Disease (Nov.)]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH Supplementary Concept]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH concept]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
See also inter- (CISMeF)
- Autosomal recessive hypophosphatemic bone disease (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive hypophosphatemic bone disease (disorder) [SNOMED CT concept]
- Hereditary hypophosphatemic rickets with hypercalciuria [ORDO Disease]
- Hereditary hypophosphatemic rickets with hypercalciuria (disorder) [SNOMED CT concept]
- Hypophosphatemic rickets with hypercalciuria, hereditary [OMIM Phenotype]
- hereditary hypophosphatemic rickets with hypercalciuria [DO Concept]
- hereditary hypophosphatemic rickets with hypercalciuria [Disease (Nov.)]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH Supplementary Concept]
- hypophosphatemic rickets with hypercalciuria, hereditary [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- SLC34A3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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