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1162808000: Familial calcium pyrophosphate dihydrate crystal deposition disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591531016 Familial calcium pyrophosphate dihydrate crystal deposition disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591536014 Familial calcium pyrophosphate deposition disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591537017 Familial CPPD (calcium pyrophosphate deposition disease) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5399273012 A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4591530015 Familial calcium pyrophosphate dihydrate crystal deposition disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591531016 Familial calcium pyrophosphate dihydrate crystal deposition disease (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591536014 Familial calcium pyrophosphate deposition disease en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4591537017 Familial CPPD (calcium pyrophosphate deposition disease) en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5399273012 A rare inherited rheumatologic disease which causes calcification of articular fibrocartilage or hyaline cartilage, a process termed chondrocalcinosis (CC). It often associates with acute synovitis and osteoarthritis (OA). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433111001000111 Kalzium-Pyrophosphat-Speicherkrankheit, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178801000241113 maladie familiale par dépôts de cristaux de pyrophosphate de calcium dihydraté fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6178801000241113 maladie familiale par dépôts de cristaux de pyrophosphate de calcium dihydraté fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433111001000111 Kalzium-Pyrophosphat-Speicherkrankheit, familiäre de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

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 Existential restriction modifier (core metadata concept)
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a Calcium pyrophosphate deposition disease true Inferred relationship Existential restriction modifier (core metadata concept)
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Familial calcium pyrophosphate dihydrate crystal deposition disease Finding site Joint structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial calcium pyrophosphate dihydrate crystal deposition disease Associated morphology Deposition of calcium pyrophosphate crystals, calcified structure (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial calcium pyrophosphate dihydrate crystal deposition disease Causative agent (attribute) Calcium pyrophosphate crystal (substance) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Familial calcium pyrophosphate dihydrate crystal deposition disease Finding site Structure of soft tissue of joint region true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial calcium pyrophosphate dihydrate crystal deposition disease Associated morphology Inflammatory morphology (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Familial calcium pyrophosphate dihydrate crystal deposition disease Is a Periarthritis true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Description inactivation indicator reference set

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