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733033001: syndroom van spinocerebellaire ataxie en dysmorfie (aandoening)


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

Descriptions:

Id Description Lang Type Status Case? Module
3498612013 Spinocerebellar ataxia dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3498613015 Spinocerebellar ataxia dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6731031000146110 syndroom van spinocerebellaire ataxie en dysmorfie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6731041000146119 syndroom van spinocerebellaire ataxie en dysmorfie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3499939014 Syndrome that is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive. 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
Spinocerebellar ataxia dysmorphism syndrome Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Is a Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Is a Spinocerebellar ataxia true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital abnormality of foot and toes (disorder) true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 5
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 5
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 6
Spinocerebellar ataxia dysmorphism syndrome Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 7
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 7
Spinocerebellar ataxia dysmorphism syndrome Finding site Cerebellar structure false Inferred relationship Some 7
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Some 8
Spinocerebellar ataxia dysmorphism syndrome Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 6
Spinocerebellar ataxia dysmorphism syndrome Finding site Spinal cord structure false Inferred relationship Some 6
Spinocerebellar ataxia dysmorphism syndrome Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 8
Spinocerebellar ataxia dysmorphism syndrome Finding site Face structure false Inferred relationship Some 5
Spinocerebellar ataxia dysmorphism syndrome Finding site Foot structure false Inferred relationship Some 8
Spinocerebellar ataxia dysmorphism syndrome Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital degeneration of nervous system true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome Is a Dysgenesis of the cerebellum true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome Finding site Face structure true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome Finding site Foot structure true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital anomaly of spinal cord (disorder) true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Finding site Cerebellar structure true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome Finding site Spinal cord structure true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital neurological disorder (disorder) false Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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