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 by site\Finding of body region\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
\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\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 by site\Finding of body region\Finding of limb structure\Disorder of extremity (disorder)\Disorder of digit\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (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 by site\Finding of body region\Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\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 by site\Finding of body region\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (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 by site\Finding of body region\Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\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 by site\Finding of body region\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 by site\Finding of body region\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 by site\Finding of body region\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 by site\Finding of body region\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 by site\Finding of body region\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
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Arthropathy of joint of hand (disorder)\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\Joint finding\Finding of finger joint\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Finding of body region\Joint finding\Joint deformity\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\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
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of digit\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of upper extremity (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 by site\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of hand (disorder)\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\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
\Finding by site\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
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Musculoskeletal finding\Joint finding\Finding of finger joint\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Musculoskeletal finding\Joint finding\Joint deformity\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Finding by site\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
\Finding by site\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
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\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 by body site (disorder)\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 by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Flexion deformity\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\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 by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of digit\Disorder of finger\Flexion deformity of finger\Fixed flexion deformity finger\Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome
\Disease\Disorder by body site (disorder)\Disorder of extremity (disorder)\Disorder of upper extremity (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 by body site (disorder)\Disorder of extremity (disorder)\Disorder of upper extremity (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	Reference Sets
3704819016	Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3704820010	Arthropathy camptodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3704821014	Pericarditis, arthropathy, camptodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3704822019	Camptodactyly, arthropathy, coxa-vara, pericarditis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3704823012	Jacobs syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3704824018	CACP (camptodactyly, arthropathy, coxa-vara, pericarditis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3704825017	CACP syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
4221921000052112	syndrom med kamptodaktyli, artropati, coxa-vara och perikardit	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation 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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