Hereditary Isolated Hyperparathyroidism

Preferred Label : Hereditary Isolated Hyperparathyroidism;

NCIt synonyms : Familial Isolated Hyperparathyroidism;

NCIt related terms : FIHP;

NCIt definition : A rare, autosomal dominant hereditary syndrome characterized by hypercalcemia, abnormally high levels of parathyroid hormone, and isolated hyperfunctioning parathyroid tumors.;

Alternative definition : NCI-GLOSS: A rare inherited condition in which one or more tumors form in the parathyroid glands (four pea-sized organs found on the thyroid) and cause them to make too much parathyroid hormone. The increased parathyroid hormone causes a loss of calcium from the bones and too much calcium in the blood.; NICHD: Primary hyperparathyroidism of autosomal dominant or recessive inheritance, associated with mutation(s) in any of the following genes: MEN1 (encoding menin); CASR (extracellular calcium-sensing receptor); or CDC73 (parafibromin), although many cases have no identifiable mutation.;

NCI Metathesaurus CUI : CL426666;

Codes from synonyms : CDR0000535479; CDR0000514876;

Details

Origin ID

C94830;

UMLS CUI

C4551961;

Automatic exact mappings (from CISMeF team)
- Hyperparathyroidism 3 [OMIM Phenotype]
- cell division cycle 73 [ORDO Gene]
- hyperparathyroidism 3 [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Familial isolated hyperparathyroidism [ICD-11 More detail]
- Familial isolated hyperparathyroidism [MedDRA Preferred Term]
- Familial isolated hyperparathyroidism [ORDO Disease]
- Familial isolated hyperparathyroidism (disorder) [SNOMED CT concept]
- Familial primary hyperparathyroidism [ORDO Disease]
- Hyperparathyroidism 1 [OMIM Phenotype]
- Hyperparathyroidism, Familial Isolated Primary [MeSH concept]
- familial hyperparathyroidism [Disease (Nov.)]
- hyperparathyroidism 1 [MeSH Supplementary Concept]
- hyperparathyroidism 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial isolated hyperparathyroidism [MedDRA Preferred Term]
- Familial isolated hyperparathyroidism (disorder) [SNOMED CT concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_associated_disease
- Hyperparathyroidism [NCIt concept]
- Parathyroid Gland Neoplasm [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_may_have_molecular_abnormality
- CASR Gene Mutation [NCIt concept]
- CDC73 Gene Mutation [NCIt concept]
- MEN1 Gene Mutation [NCIt concept]
pathogenesis_of_disease_involves_gene
- CDC73 Gene [NCIt concept]
- CDC73 wt Allele [NCIt concept]
related_to_genetic_biomarker
- CASR Gene [NCIt concept]
- CDC73 Gene [NCIt concept]
- MEN1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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