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24269006: Distal arthrogryposis syndrome (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome

\Disease (disorder)\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome
\Disease (disorder)\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome
\Disease (disorder)\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Distal arthrogryposis syndrome
\Disease (disorder)\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome
\Disease (disorder)\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Distal arthrogryposis syndrome
\Disease (disorder)\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Distal arthrogryposis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
40738012	Distal arthrogryposis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
753886011	Distal arthrogryposis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1223230016	Distal arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
1419601000005115	Distal artrogrypose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)	Danish language reference set (foundation metadata concept): Preferred (foundation metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal arthrogryposis syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Arthrogryposis	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Congenital anomaly of skeletal muscle	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Autosomal hereditary disorder	true	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Finding site	Skeletal muscle structure (body structure)	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Associated morphology	Contracture	true	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Finding site	Brain structure	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Associated morphology	Kongenit malformation	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Distal arthrogryposis syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	3
Distal arthrogryposis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Finding site	Joint structure	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Is a	Arthrogryposis	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
Distal arthrogryposis syndrome	Associated morphology	Contracture	false	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Distal arthrogryposis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal arthrogryposis syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal arthrogryposis type 2B (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Distal arthrogryposis type 5 (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Distal arthrogryposis type 4 (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Distal arthrogryposis type 1 (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Distal arthrogryposis type 6 (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Ehlers-Danlos syndrome musculocontractural type (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Freeman-Sheldon syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Autism spectrum disorder, epilepsy, arthrogryposis syndrome (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Autosomal dominant multiple pterygium syndrome (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Distal arthrogryposis type 5D (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Pelvic dysplasia, arthrogryposis of lower limbs syndrome	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some
Distal arthrogryposis type 3 (disorder)	Is a	True	Distal arthrogryposis syndrome	Inferred relationship	Some

Reference Sets

Danish translated concepts reference set (foundation metadata concept)

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