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716999001: Joubert syndrome with renal defect (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
3308138014 Joubert syndrome with renal defect (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3308139018 Joubert syndrome with renal defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401442010 Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401443017 Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders characterised by the neurological features of JS associated with renal disease, in the absence of retinopathy. 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
Joubert syndrome with renal defect (disorder) Is a Joubert syndrome (disorder) true Inferred relationship Some
Joubert syndrome with renal defect (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Joubert syndrome with renal defect (disorder) Finding site Kidney structure true Inferred relationship Some 2
Joubert syndrome with renal defect (disorder) Associated morphology Aplasia false Inferred relationship Some 2
Joubert syndrome with renal defect (disorder) Occurrence Congenital false Inferred relationship Some 2
Joubert syndrome with renal defect (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 2
Joubert syndrome with renal defect (disorder) Occurrence Congenital true Inferred relationship Some 1
Joubert syndrome with renal defect (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Joubert syndrome with renal defect (disorder) Associated morphology Aplasia true Inferred relationship Some 1
Joubert syndrome with renal defect (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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