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733033001: Spinocerebellar ataxia dysmorphism syndrome (disorder)


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
5403681012 A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403682017 A rare hereditary ataxia characterised by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
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
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
5403681012 A rare hereditary ataxia characterized by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403682017 A rare hereditary ataxia characterised by unusual facies (i.e. gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. There have been no further descriptions in the literature since 1985. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3428991001000113 Spinozerebelläre Ataxie-Dysmorphie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
986611000172114 syndrome d'ataxie spinocérébelleuse-dysmorphie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
986611000172114 syndrome d'ataxie spinocérébelleuse-dysmorphie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3428991001000113 Spinozerebelläre Ataxie-Dysmorphie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Is a Hereditary cerebellar degeneration false Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Is a Spinocerebellar ataxia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital anomaly of foot true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spinocerebellar ataxia dysmorphism syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spinocerebellar ataxia dysmorphism syndrome Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spinocerebellar ataxia dysmorphism syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spinocerebellar ataxia dysmorphism syndrome Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spinocerebellar ataxia dysmorphism syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spinocerebellar ataxia dysmorphism syndrome Finding site Face structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinocerebellar ataxia dysmorphism syndrome Finding site Foot structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spinocerebellar ataxia dysmorphism syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital degeneration of nervous system true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinocerebellar ataxia dysmorphism syndrome Is a Dysgenesis of the cerebellum true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinocerebellar ataxia dysmorphism syndrome Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia dysmorphism syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia dysmorphism syndrome Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinocerebellar ataxia dysmorphism syndrome Finding site Foot structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar ataxia dysmorphism syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia dysmorphism syndrome Is a Congenital anomaly of spinal cord true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar ataxia dysmorphism syndrome Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia dysmorphism syndrome Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar ataxia dysmorphism syndrome Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinocerebellar ataxia dysmorphism syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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