Autosomal Recessive Hypoparathyroidism

Preferred Label : Autosomal Recessive Hypoparathyroidism;

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

Details

Origin ID

C129731;

UMLS CUI

C1840334;

Currated CISMeF NLP mapping
- hypoparathyroidism, autosomal recessive [MeSH concept]
- hypoparathyroidism, autosomal recessive [MeSH Supplementary Concept]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Neck [NCIt concept]
- Parathyroid Gland [NCIt concept]
See also inter- (CISMeF)
- Hypoparathyroidism, familial isolated, 1 [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypoparathyroidism, autosomal recessive [MeSH Supplementary Concept]
- hypoparathyroidism, autosomal recessive [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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