X-Linked Hypoparathyroidism

Preferred Label : X-Linked Hypoparathyroidism;

Alternative definition : NICHD: Hypoparathyroidism in which the inheritance is recessive and linked to the q26-q27 region of the X chromosome. The parathyroid glands are usually incompletely developed (parathyroid dysgenesis) or absent (parathyroid agenesis).;

Details

Origin ID

C131079;

UMLS CUI

C0342344;

Currated CISMeF NLP mapping
- Hypoparathyroidism, X-linked [OMIM Phenotype]
- X-linked hypoparathyroidism [DO Concept]
- X-linked hypoparathyroidism (disorder) [SNOMED CT concept]
- hypoparathyroidism, X-Linked [MeSH Supplementary Concept]
- hypoparathyroidism, X-Linked [MeSH concept]
Has associated anatomic sites
- 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)
- Hypoparathyroidism, X-linked [OMIM Phenotype]
- X-linked hypoparathyroidism (disorder) [SNOMED CT concept]
- hypoparathyroidism, X-Linked [MeSH Supplementary Concept]
- hypoparathyroidism, X-Linked [MeSH concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]

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