Juvenile Paget Disease

Preferred Label : Juvenile Paget Disease;

NCIt synonyms : Paget Disease of Bone-5; PDB5;

NCIt related terms : Familial Hyperphosphatasia;

NCIt definition : A bone disorder caused by autosomal recessive mutation(s) of the gene TNFRSF11B, which encodes tumor necrosis factor receptor superfamily member 11B. This condition is characterized by excessive osteoclastic resorption of bone followed by deposition of weak, disorganized woven bone. Clinical characteristics include short stature, enlarged skull, bony deformities, bone pain, warm skin over the affected bone, joint stiffness, headaches, hearing loss, and elevated serum alkaline phosphatase.;

Details

Origin ID

C131861;

UMLS CUI

C0268414;

Currated CISMeF NLP mapping
- Hyperostosis corticalis deformans juvenilis [MeSH concept]
- Hyperphosphatasemia with bone disease (disorder) [SNOMED CT concept]
- Juvenile Paget disease [ORDO Disease]
- Juvenile Paget disease [ICD-11 Subcategory]
- Juvenile Paget's disease [MedDRA Preferred Term]
- Paget disease juvenile type [TUV Concept]
- Paget disease of bone 5, juvenile-onset [OMIM Phenotype]
- hyperostosis corticalis deformans juvenilis [MeSH Supplementary Concept]
- hyperphosphatasemia with bone disease [SNOMED Notion]
Has associated anatomic sites
- Bone [NCIt concept]
- Connective and Soft Tissue [NCIt concept]
- Musculoskeletal System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperostosis corticalis deformans juvenilis [MeSH concept]
- Hyperphosphatasemia with bone disease (disorder) [SNOMED CT concept]
- Juvenile Paget disease [ORDO Disease]
- Juvenile Paget's disease [MedDRA Preferred Term]
- Paget disease juvenile type [TUV Concept]
- Paget disease of bone 5, juvenile-onset [OMIM Phenotype]
- hyperostosis corticalis deformans juvenilis [MeSH Supplementary Concept]
- hyperphosphatasemia with bone disease [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Endocrinology Terminology [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Bone [NCIt concept]
disease_mapped_to_gene
- TNFRSF11B Gene [NCIt concept]
related_to_genetic_biomarker
- TNFRSF11B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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