hyperparathyroidism 1

Preferred Label : hyperparathyroidism 1;

MeSH note : also known as HRPT1; associated with mutations in gene HRPT2 which codes for parafibromin;

CISMeF synonym : parathyroid adenoma, familial; familial isolated hyperparathyroidism;

CISMeF acronym : HRPT1;

MeSH Hyperonym : Hyperparathyroidism, Familial Isolated Primary;

Details

Origin ID

C564166;

UMLS CUI

C1840402;

Automatic exact mappings (from CISMeF team)
- CDC73 wt Allele [NCIt concept]
- Familial parathyroid adenoma [ICD-11 More detail]
- Hyperparathyroidism 3 [OMIM Phenotype]
Currated CISMeF NLP mapping
- Familial isolated hyperparathyroidism [ICD-11 More detail]
- Familial isolated hyperparathyroidism [MedDRA Preferred Term]
- Familial isolated hyperparathyroidism (disorder) [SNOMED CT concept]
- Familial parathyroid adenoma [ORDO Disease]
- Familial primary hyperparathyroidism [ORDO Disease]
- Hereditary Isolated Hyperparathyroidism [NCIt concept]
- Hyperparathyroidism 1 [OMIM Phenotype]
MeSH term(s) associated for indexing
- hyperparathyroidism, primary [MeSH Descriptor]
ORDO relation(s)
- Familial isolated hyperparathyroidism [ORDO Disease]
- Familial parathyroid adenoma [ORDO Disease]
Record concept(s)
- Hyperparathyroidism, Familial Isolated Primary [MeSH concept]
- hyperparathyroidism 1 [MeSH concept]
- parathyroid adenoma, familial [MeSH concept]
See also inter- (CISMeF)
- Familial isolated hyperparathyroidism [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperparathyroidism 1 [OMIM Phenotype]

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