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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


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 Developmental anomaly 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 Degeneration 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 Degeneration 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 Developmental anomaly 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 Degeneration 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 Degeneration 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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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