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715216008: Distal arthrogryposis type 2B (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
3301893013 Distal arthrogryposis type 2B (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3301894019 Distal arthrogryposis type 2B en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3301895018 Sheldon-Hall syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3301896017 Freeman-Sheldon syndrome variant en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400799010 Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400800014 Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterised by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. 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 2B (disorder) Is a Distal arthrogryposis syndrome true Inferred relationship Some
Distal arthrogryposis type 2B (disorder) Associated morphology Contracture true Inferred relationship Some 1
Distal arthrogryposis type 2B (disorder) Occurrence Congenital true Inferred relationship Some 1
Distal arthrogryposis type 2B (disorder) Finding site Joint structure false Inferred relationship Some 1
Distal arthrogryposis type 2B (disorder) Has interpretation Decreased true Inferred relationship Some 2
Distal arthrogryposis type 2B (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Distal arthrogryposis type 2B (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Distal arthrogryposis type 2B (disorder) Interprets Range of joint movement true Inferred relationship Some 2
Distal arthrogryposis type 2B (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 3
Distal arthrogryposis type 2B (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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