Familial Hypercalciuric Hypocalcemia

Preferred Label : Familial Hypercalciuric Hypocalcemia;

Alternative definition : NICHD: A hereditary condition caused by calcium sensing receptor gene mutations, resulting in calcium-hypersensitivity, and compensatory hypocalcemia and hypercalciuria.;

Détails

Origin ID

C123261;

UMLS CUI

C4048195;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant hypocalcemia (disorder) [SNOMED CT concept]
- hypercalciuric hypocalcemia, familial [MeSH Supplementary Concept]
- hypercalciuric hypocalcemia, familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant hypocalcemia (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Nephrology Terminology [NCIt concept]
related_to_genetic_biomarker
- CASR Gene [NCIt concept]
- GNA11 Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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