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

SNOMED CT Concept\Clinical finding (finding)\...

\Deformity (finding)\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Deformity (finding)\Joint deformity\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome

\Finding of limb structure\Deformity of limb (finding)\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Deformity of upper limb\Deformity of hand\Flexion deformity of hand\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Finding of musculoskeletal structure of finger\Finding of finger joint\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of finger (finding)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Finding of digit of hand\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Finding of finger joint\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Deformity of hand\Flexion deformity of hand\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding of limb structure\Finding of upper limb\Finding of hand region\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome

\Musculoskeletal finding\Finding of musculoskeletal structure of digit of hand\Finding of musculoskeletal structure of finger\Finding of finger joint\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Joint finding\Finding of finger joint\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Joint finding\Joint deformity\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome

\Disease\Disorder of joint region\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of limb (disorder)\Disorder of digit\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder of limb (disorder)\Disorder of upper limb (disorder)\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome

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

5490571000172119 syndrome d'arthropathie et camptodactylie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5490591000172118 syndrome de camptodactylie, arthropathie, coxa vara et péricardite fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

5490601000172111 syndrome de Jacobs fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5490581000172116 CACP-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

5490611000172114 syndroom van camptodactylie, artropathie, coxa vara en pericarditis nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

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

GB English

US English

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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
5490571000172119	syndrome d'arthropathie et camptodactylie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5490591000172118	syndrome de camptodactylie, arthropathie, coxa vara et péricardite	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5490601000172111	syndrome de Jacobs	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5490581000172116	CACP-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
5490611000172114	syndroom van camptodactylie, artropathie, coxa vara en pericarditis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)