hypercalciuric hypocalcemia, familial

Preferred Label : hypercalciuric hypocalcemia, familial;

MeSH note : PROM;

CISMeF synonym : hypocalcemia, autosomique dominant;

MeSH synonym : hypocalcemia, familial; hypoparathyroidism, autosomal dominant; Hypocalcemia, Autosomal Dominant;

Details

Origin ID

C562783;

UMLS CUI

C0342345;

Automatic exact mappings (from CISMeF team)
- Familial Hypercalciuric Hypocalcemia [NCIt concept]
- Hypocalcemia, autosomal dominant 1 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Autosomal Dominant Hypoparathyroidism [NCIt concept]
- Autosomal dominant hypocalcemia [ORDO Disease]
- Autosomal dominant hypocalcemia (disorder) [SNOMED CT concept]
- Hypoparathyroidism - autosomal dominant (disorder) [SNOMED CT concept]
- autosomal dominant hypocalcemia [DO Concept]
MeSH term(s) associated for indexing
- hypercalciuria [MeSH Descriptor]
- hypocalcemia [MeSH Descriptor]
- hypoparathyroidism [MeSH Descriptor]
Record concept(s)
- hypercalciuric hypocalcemia, familial [MeSH concept]
See also inter- (CISMeF)
- Hypoparathyroidism, familial isolated, 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal Dominant Hypoparathyroidism [NCIt concept]
- Hypoparathyroidism - autosomal dominant (disorder) [SNOMED CT concept]

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