tumoral calcinosis, normophosphatemic, familial

Preferred Label : tumoral calcinosis, normophosphatemic, familial;

MeSH note : mutatins in SAMD9;

MeSH synonym : calcinosis, tumoral, with normophosphatemia;

Details

Origin ID

C566473;

UMLS CUI

C1864861;

Currated CISMeF NLP mapping
- Familial normophosphatemic tumoral calcinosis [ORDO Disease]
- Familial normophosphatemic tumoral calcinosis (disorder) [SNOMED CT concept]
- Tumoral calcinosis, normophosphatemic, familial [OMIM Phenotype]
- normophosphatemic familial tumoral calcinosis [DO Concept]
Manual NTBT mappings (CISMeF)
- familial tumoral calcinosis [Disease (Nov.)]
MeSH term(s) associated for indexing
- calcinosis [MeSH Descriptor]
- hyperostosis, cortical, congenital [MeSH Descriptor]
Record concept(s)
- tumoral calcinosis, normophosphatemic, familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Familial normophosphatemic tumoral calcinosis [ORDO Disease]
- Familial normophosphatemic tumoral calcinosis (disorder) [SNOMED CT concept]
- Tumoral calcinosis, normophosphatemic, familial [OMIM Phenotype]
- normophosphatemic familial tumoral calcinosis [DO Concept]

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