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720513002: Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3321088016 Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321089012 Arthrogryposis with renal dysfunction and cholestasis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3321090015 ARC (arthrogryposis, renal dysfunction, cholestasis) syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5402379014 A rare, multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5402380012 A rare, multisystem disorder, characterised by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity. 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
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Due to Denervation atrophy of muscle true Inferred relationship Some 3
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Is a Inherited disorder of bilirubin metabolism true Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Is a Neurogenic arthrogryposis multiplex congenita (disorder) true Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 3
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 3
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 4
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Finding site Joint structure false Inferred relationship Some 4
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Is a Inherited arthrogryposis false Inferred relationship Some
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Associated morphology Contracture true Inferred relationship Some 1
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Finding site Joint structure false Inferred relationship Some 1
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Has interpretation Decreased true Inferred relationship Some 2
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Interprets Range of joint movement true Inferred relationship Some 2
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Finding site Structure of joint region true Inferred relationship Some 1
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Has interpretation Absent false Inferred relationship Some 4
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Interprets Range of joint movement false Inferred relationship Some 4
Arthrogryposis with renal dysfunction and cholestasis syndrome (disorder) Finding site Joint structure of multiple body sites (body structure) true Inferred relationship Some 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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