Autosomal Dominant Hypoparathyroidism

Preferred Label : Autosomal Dominant Hypoparathyroidism;

Alternative definition : NICHD: Hypoparathyroidism associated with heterozygous mutation(s) in the PTH gene, which encodes parathyroid hormone, or in the GCM2 gene, which encodes chorion-specific transcription factor GCMb.;

NCI Metathesaurus CUI : CL513020;

Détails

Origin ID

C129730;

UMLS CUI

C0342345;

Currated CISMeF NLP mapping
- Hypoparathyroidism - autosomal dominant (disorder) [SNOMED CT concept]
- hypercalciuric hypocalcemia, familial [MeSH Supplementary Concept]
- hypercalciuric hypocalcemia, familial [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]
See also inter- (CISMeF)
- Autosomal dominant hypocalcemia [ORDO Disease]
- Autosomal dominant hypocalcemia (disorder) [SNOMED CT concept]
- Hypoparathyroidism, familial isolated, 1 [OMIM Phenotype]
- autosomal dominant hypocalcemia [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoparathyroidism - autosomal dominant (disorder) [SNOMED CT concept]
- hypercalciuric hypocalcemia, familial [MeSH Supplementary Concept]
- hypercalciuric hypocalcemia, familial [MeSH concept]
concept_is_in_subset
- 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
- GCM2 Gene [NCIt concept]

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

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