pseudohypoparathyroidism type 1C

Preferred Label : pseudohypoparathyroidism type 1C;

Définition CISMeF : Pseudohypoparathyroidism type 1c (PHP1c) is a rare type of pseudohypoparathyroidism (PHP; see this term) characterized by resistance to parathyroid hormone (PTH) and other hormones, which manifests with hypocalcemia, hyperphosphatemia and elevated PTH levels, a constellation of clinical features collectively termed Albright's hereditary osteodystrophy (AHO; see this term), but normal activity of the stimulatory protein G (Gs alpha).;

MeSH synonym : php ic; Php1c; pseudohypoparathyroidism, type ic;

Details

Origin ID

C548076;

UMLS CUI

C2932716;

Automatic exact mappings (from CISMeF team)
- Pseudohypoparathyroidism type 1C [ICD-11 More detail]
CISMeF manual mappings
- pseudohypoparathyroidism 1C [Disease (Nov.)]
Currated CISMeF NLP mapping
- Pseudohypoparathyroidism type 1C [ORDO Disease]
- Pseudohypoparathyroidism type 1C (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism, type ic [OMIM Phenotype]
MeSH term(s) associated for indexing
- pseudohypoparathyroidism [MeSH Descriptor]
ORDO relation(s)
- Pseudohypoparathyroidism type 1C [ORDO Disease]
Record concept(s)
- Pseudohypoparathyroidism Type 1C [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pseudohypoparathyroidism type 1C [ORDO Disease]
- Pseudohypoparathyroidism type 1C (disorder) [SNOMED CT concept]
- Pseudohypoparathyroidism, type ic [OMIM Phenotype]
- pseudohypoparathyroidism 1C [Disease (Nov.)]

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