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1204415006: Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder)


Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4955438013 SCAR3 - spinocerebellar ataxia autosomal recessive type 3 en Synonym Active Case sensitive SNOMED CT core
4955439017 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
4955440015 Autosomal recessive spinocerebellar ataxia type 3 en Synonym Active Case insensitive SNOMED CT core
4955441016 Autosomal recessive spinocerebellar ataxia, blindness, hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core
4955442011 Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome en Synonym Active Case insensitive SNOMED CT core
4955443018 A rare autosomal recessive syndromic cerebellar ataxia with the association of early-onset cerebellar ataxia, hearing loss and blindness. Patients may also present demyelinating peripheral motor neuropathy. Cerebral MRI shows alterations of the cerebellar white matter without cerebellar atrophy. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Decreased hearing true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Blindness AND/OR vision impairment level true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Spinocerebellar ataxia true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Hearing loss associated with syndrome true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Auditory system hereditary disorder true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Finding site Structure of visual system true Inferred relationship Some 4
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Finding site Structure of auditory system true Inferred relationship Some 5
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Interprets Hearing true Inferred relationship Some 3
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Has interpretation Decreased true Inferred relationship Some 3
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Finding site Cerebellar structure true Inferred relationship Some 1
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Finding site Spinal cord structure true Inferred relationship Some 2
Autosomal recessive spinocerebellar ataxia, blindness, deafness syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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