tumoral calcinosis, hyperphosphatemic, familial

Preferred Label : tumoral calcinosis, hyperphosphatemic, familial;

MeSH note : aka PHPTC; mutation in GALNT3 or FGF23 or KL;

MeSH synonym : tumoral calcinosis, primary hyperphosphatemic; morbus teutschlaender; teutschlaender disease, familial; calcinosis, tumoral, with hyperphosphatemia; lipocalcinogranulomatosis; Primary Hyperphosphatemic Tumoral Calcinosis; Hyperphosphatemic Familial Tumoral Calcinosis; Hyperphosphatemia Hyperostosis; Hyperphosphatemia Hyperostosis Syndrome; Hyperphosphatemia Tumoral Calcinosis;

Details

Origin ID

C566870;

UMLS CUI

C1876187;

Currated CISMeF NLP mapping
- Hyperphosphataemic familial tumoural calcinosis [ICD-11 More detail]
- Hyperphosphatemic Familial Tumoral Calcinosis [NCIt concept]
- Hyperphosphatemic familial tumoral calcinosis (disorder) [SNOMED CT concept]
- Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM Phenotype]
- hyperphosphatemic 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]
- hyperphosphatemia [MeSH Descriptor]
Record concept(s)
- tumoral calcinosis, hyperphosphatemic, familial [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperphosphatemic Familial Tumoral Calcinosis [NCIt concept]
- Hyperphosphatemic familial tumoral calcinosis (disorder) [SNOMED CT concept]
- Tumoral calcinosis, hyperphosphatemic, familial, 1 [OMIM Phenotype]
- hyperphosphatemic familial tumoral calcinosis [DO Concept]

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