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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 localisation d'une constatation (attribut) Joint structure of multiple body sites (body structure) true Inferred relationship Some 2
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome morphologie associée (attribut) Fixed flexion deformity (morphologic abnormality) true Inferred relationship Some 1
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) Fixed flexion deformity finger true Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) déformation en flexion d'un doigt (trouble) false Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome localisation d'une constatation (attribut) Proximal interphalangeal joint of finger structure true Inferred relationship Some 1
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) polyarthropathie true Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome morphologie associée (attribut) Flexion deformity false Inferred relationship Some 1
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

GB English

US English

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