Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
4591530015 | Familial calcium pyrophosphate dihydrate crystal deposition disease | en | Synonym | Active | Case insensitive | SNOMED CT core |
4591531016 | Familial calcium pyrophosphate dihydrate crystal deposition disease (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
4591536014 | Familial calcium pyrophosphate deposition disease | en | Synonym | Active | Case insensitive | SNOMED CT core |
4591537017 | Familial CPPD (calcium pyrophosphate deposition disease) | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
4591534012 | A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumor Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance. | en | Definition | Active | Case sensitive | SNOMED CT core |
4591535013 | A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage. It often associates with acute synovitis and osteoarthritis. The disease manifests in early adulthood (20-40 years old) and has a variable clinical phenotype. Mutations in the ANKH gene (human homologue of progressive ankylosis; 5p15.2), encoding a protein involved in cellular inorganic pyrophosphate transport, were identified in some cases of familial CPPD. Other familial cases have been linked to mutation in the Tumour Necrosis Factor Receptor Super Family member 11B (TNFRSF11B) gene coding for osteoprotegerin (OPG) Other causative genes are yet to be determined. Has an autosomal dominant mode of inheritance with variable penetrance. | en | Definition | Active | Case sensitive | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Familial calcium pyrophosphate dihydrate crystal deposition disease | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
Familial calcium pyrophosphate dihydrate crystal deposition disease | Is a | Calcium pyrophosphate deposition disease | true | Inferred relationship | Some | ||
Familial calcium pyrophosphate dihydrate crystal deposition disease | Is a | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
Familial calcium pyrophosphate dihydrate crystal deposition disease | Finding site | Joint structure | true | Inferred relationship | Some | 1 | |
Familial calcium pyrophosphate dihydrate crystal deposition disease | Associated morphology | Deposition of calcium pyrophosphate crystals, calcified structure | true | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Musculoskeletal finding reference set
Problem/Diagnosis reference set