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715217004: 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:

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


0 descendants.

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
Distal arthrogryposis type 5 (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Distal arthrogryposis type 5 (disorder) Associated morphology Contracture true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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