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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 Reference Sets
3301898016 Distal arthrogryposis type 5 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3301899012 Distal arthrogryposis type 5 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3301900019 Arthrogryposis with oculomotor limitation and electroretinal anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3301901015 Distal arthrogryposis with ophthalmoplegia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
3301902010 Oculomelic amyoplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Acceptable (foundation metadata concept)
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 US English: Preferred (foundation metadata concept)
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 GB English: Preferred (foundation metadata concept)

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

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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