Preferred Name

Primary Hyperparathyroidism
Synonyms
Definitions

Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.

ID

http://purl.obolibrary.org/obo/NCIT_C48280

ALT_DEFINITION

Hyperparathyroidism due to a condition originating within the parathyroid glands, resulting in hypercalcemia due to increased release of calcium and phosphate from bone matrix, increased renal calcium reabsorption, and increased renal production of 1,25-dihydroxyvitamin D, which increases intestinal absorption of calcium. Primary hyperparathyroidism is also associated with hypophosphatemia as a result of phosphaturia. Clinical features include weakness, fatigue, nausea, vomiting, constipation, depression, and, if chronic, bone pain, osteoporosis, cystic bone lesions, and kidney stones.

code

C48280

Contributing_Source

MedDRA

NICHD

definition

Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones.

in_subset

http://purl.obolibrary.org/obo/NCIT_C90259

http://purl.obolibrary.org/obo/NCIT_C118467

http://purl.obolibrary.org/obo/NCIT_C118464

label

Primary Hyperparathyroidism

Legacy Concept Name

Primary_Hyperparathyroidism

Maps_To

Primary hyperparathyroidism

Preferred_Name

Primary Hyperparathyroidism

prefixIRI

NCIT:C48280

prefLabel

Primary Hyperparathyroidism

Semantic_Type

Disease or Syndrome

UMLS_CUI

C0221002

subClassOf

http://purl.obolibrary.org/obo/NCIT_C48259

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http://purl.obolibrary.org/obo/DOID_11202 MIDO LOOM
http://purl.obolibrary.org/obo/DOID_11202 FNS-H LOOM
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http://purl.bioontology.org/ontology/ICD10/E21.0 ICD10 LOOM
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rgo:26210 GAMUTS LOOM
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http://purl.bioontology.org/ontology/MEDDRA/10036693 MEDDRA LOOM
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http://www.ebi.ac.uk/efo/EFO_0008519 CCONT LOOM
http://www.ebi.ac.uk/efo/EFO_0008519 EFO LOOM
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http://purl.obolibrary.org/obo/HP_0008200 UPHENO LOOM
http://purl.bioontology.org/ontology/RCTV2/C120000 RCTV2 LOOM
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http://purl.bioontology.org/ontology/ICD9CM/252.01 ICD9CM LOOM