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771187008: Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3704819016 Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704820010 Arthropathy camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704821014 Pericarditis, arthropathy, camptodactyly syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704822019 Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3704823012 Jacobs syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704824018 CACP (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704825017 CACP syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3704829011 A rare genetic rheumatologic disease with characteristics of congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis. There is evidence the disease can be caused by homozygous mutation in the proteoglycan-4 gene (PRG4) on chromosome 1q31. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a Flexion deformity of finger false Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Finding site Proximal interphalangeal joint of finger structure (body structure) true Inferred relationship Some 1
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a Polyarthropathy true Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Associated morphology Flexion deformity false Inferred relationship Some 1
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Associated morphology Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome Is a Fixed flexion deformity finger true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Description inactivation indicator reference set

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