715217004: Distal arthrogryposis type 5 (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)

\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\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Distal arthrogryposis syndrome\Distal arthrogryposis type 5 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Distal arthrogryposis type 5 (disorder)	Is a	Distal arthrogryposis syndrome	true	Inferred relationship	Some
Distal arthrogryposis type 5 (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	1
Distal arthrogryposis type 5 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Distal arthrogryposis type 5 (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	1
Distal arthrogryposis type 5 (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	2
Distal arthrogryposis type 5 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Distal arthrogryposis type 5 (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Distal arthrogryposis type 5 (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3301898016	Distal arthrogryposis type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301899012	Distal arthrogryposis type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301900019	Arthrogryposis with oculomotor limitation and electroretinal anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301901015	Distal arthrogryposis with ophthalmoplegia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3301902010	Oculomelic amyoplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3313038016	An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3313039012	An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
11838211000172114	arthrogrypose distale de type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11838221000172116	arthrogrypose avec limitation du champ oculomoteur	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11838231000172118	amyoplasie oculomélique	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4164451000172112	artrogrypose met oculomotorische beperking en elektroretinale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4164461000172114	distale artrogrypose met oftalmoplegie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4164471000172117	distale artrogrypose type 5	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4164481000172119	oculomelic amyoplasia	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4164491000172116	arthrogryposis-oftalmoplegie-retinopathie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)