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715465001: Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder)


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302721013 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3302722018 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy en Synonym Active Case insensitive SNOMED CT core
3302723011 Spastic ataxia and corneal dystrophy en Synonym Active Case insensitive SNOMED CT core
3302724017 Bedouin spastic ataxia syndrome en Synonym Active Case sensitive SNOMED CT core
3302725016 Mousa-Al Din-Al Nassar syndrome en Synonym Active Case sensitive SNOMED CT core
3302726015 Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Bedouin spastic ataxia syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Bedouin spastic ataxia syndrome Is a Macular corneal dystrophy true Inferred relationship Some
Bedouin spastic ataxia syndrome Is a Spinocerebellar disease true Inferred relationship Some
Bedouin spastic ataxia syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Bedouin spastic ataxia syndrome Finding site Spinal cord structure true Inferred relationship Some 2
Bedouin spastic ataxia syndrome Finding site Cerebellar structure true Inferred relationship Some 1
Bedouin spastic ataxia syndrome Associated morphology Dystrophy true Inferred relationship Some 3
Bedouin spastic ataxia syndrome Finding site Structure of substantia propria of cornea true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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