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


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


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 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

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