Hypoparathyroidism, X-linked

Preferred Label : Hypoparathyroidism, X-linked;

Symbol : HYPX;

CISMeF acronym : HYPX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Parathyroid glands, agenesis of;

Inheritance : X-linked;

Prefixed ID : #307700;

Details

Origin ID

307700;

UMLS CUI

C0342344;

Automatic exact mappings (from CISMeF team)
- Congenital absence of parathyroid gland (disorder) [SNOMED CT concept]
- Familial isolated hypoparathyroidism due to agenesis of parathyroid gland [ORDO Disease]
- hypoparathyroidism [HGNC gene]
- parathyroid glands, agenesis of [MeSH concept]
- parathyroid glands, agenesis of [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- X-Linked Hypoparathyroidism [NCIt concept]
- X-linked hypoparathyroidism [DO Concept]
- X-linked hypoparathyroidism (disorder) [SNOMED CT concept]
- hypoparathyroidism, X-Linked [MeSH concept]
- hypoparathyroidism, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- X-linked hypoparathyroidism [DO Concept]
- hypoparathyroidism [DO Concept]
HPO term(s)
- Abnormality of the neck [HPO term]
- Congenital hypoparathyroidism [HPO term]
- Neonatal true idiopathic hypoparathyroidism [HPO term]
- Seizure [HPO term]
- Tetany [HPO term]
- X-linked inheritance [HPO term]
ORDO concept(s)
- Familial isolated hypoparathyroidism [ORDO Disease]
- Familial isolated hypoparathyroidism due to agenesis of parathyroid gland [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Hypoparathyroidism [NCIt concept]
- X-linked hypoparathyroidism (disorder) [SNOMED CT concept]
- hypoparathyroidism, X-Linked [MeSH Supplementary Concept]
- hypoparathyroidism, X-Linked [MeSH concept]

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