Neonatal Severe Primary Hyperparathyroidism

Preferred Label : Neonatal Severe Primary Hyperparathyroidism;

NCIt definition : A genetic condition caused by loss-of-function mutation(s) in the CASR gene, encoding extracellular calcium-sensing receptor. It is characterized by severe hypercalcemia and metabolic bone disease occurring in the first six months of life.;

Détails

Origin ID

C131853;

UMLS CUI

C1832615;

Currated CISMeF NLP mapping
- Hyperparathyroidism, neonatal severe [OMIM Phenotype]
- Neonatal severe primary hyperparathyroidism [ORDO Disease]
- Neonatal severe primary hyperparathyroidism [ICD-11 More detail]
- Neonatal severe primary hyperparathyroidism (disorder) [SNOMED CT concept]
- hyperparathyroidism, neonatal severe primary [MeSH Supplementary Concept]
- hyperparathyroidism, neonatal severe primary [MeSH concept]
Has associated anatomic sites
- Endocrine Gland [NCIt concept]
- Endocrine System [NCIt concept]
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Parathyroid Gland [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperparathyroidism, neonatal severe [OMIM Phenotype]
- Neonatal severe primary hyperparathyroidism [ORDO Disease]
- Neonatal severe primary hyperparathyroidism (disorder) [SNOMED CT concept]
- hyperparathyroidism, neonatal severe primary [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_primary_anatomic_site
- Endocrine System [NCIt concept]
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Parathyroid Gland [NCIt concept]
disease_mapped_to_gene
- CASR Gene [NCIt concept]

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

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients