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733033001: syndrome d'ataxie spinocérébelleuse-dysmorphie (trouble)


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
762791000241110 syndrome d'ataxie spinocérébelleuse-dysmorphie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
986611000172114 syndrome d'ataxie spinocérébelleuse-dysmorphie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation 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 morphologie associée (attribut) dégénérescence false Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) 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 est un(e) (attribut) dysgénésie du cervelet true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) face true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) pied (structure corporelle) true Inferred relationship Some 1
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) Congenital anomaly of spinal cord true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) structure cérébelleuse true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) moelle spinale (structure corporelle) true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 3
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) Degenerative abnormality true Inferred relationship Some 4
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) Hereditary cerebellar degeneration false Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) ataxie spinocérébelleuse dominante true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome est un(e) (attribut) Congenital anomaly of foot true Inferred relationship Some
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital false Inferred relationship Some 5
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital false Inferred relationship Some 6
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 7
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital false Inferred relationship Some 7
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) structure cérébelleuse false Inferred relationship Some 7
Spinocerebellar ataxia dysmorphism syndrome survenue (attribut) congénital false Inferred relationship Some 8
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) dégénérescence false Inferred relationship Some 6
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) moelle spinale (structure corporelle) false Inferred relationship Some 6
Spinocerebellar ataxia dysmorphism syndrome morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) face false Inferred relationship Some 5
Spinocerebellar ataxia dysmorphism syndrome localisation d'une constatation (attribut) pied (structure corporelle) false Inferred relationship Some 8

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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