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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). 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 Entire term case insensitive (core metadata concept) SNOMED CT core
3302722018 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302723011 Spastic ataxia and corneal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302724017 Bedouin spastic ataxia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302725016 Mousa-Al Din-Al Nassar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400911017 A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400912012 A rare, hereditary ataxia disorder characterised by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302721013 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302721013 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302722018 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302722018 Spinocerebellar degeneration co-occurrent with macular corneal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302723011 Spastic ataxia and corneal dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3302723011 Spastic ataxia and corneal dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302724017 Bedouin spastic ataxia syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3302725016 Mousa-Al Din-Al Nassar syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5400911017 A rare, hereditary ataxia disorder characterized by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400912012 A rare, hereditary ataxia disorder characterised by the presence of spastic ataxia in association with bilateral congenital cataract, macular corneal dystrophy (stromal with deposition of mucoid material) and nonaxial myopia. Patients present normal intellectual development. There have been no further descriptions in the literature since 1986. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
521891000274117 Mousa-Al Din-Al Nassar-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600971000274115 Syndrom mit spastischer Ataxie und Hornhautdystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447971001000113 Spastische Ataxie - Hornhautdystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
521891000274117 Mousa-Al Din-Al Nassar-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
600971000274115 Syndrom mit spastischer Ataxie und Hornhautdystrophie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3447971001000113 Spastische Ataxie - Hornhautdystrophie 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 degeneration co-occurrent with macular corneal dystrophy (disorder) Is a Macular corneal dystrophy true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Is a Spinocerebellar disease true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Finding site Cerebellar structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Associated morphology Dystrophy true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Finding site Structure of substantia propria of cornea true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinocerebellar degeneration co-occurrent with macular corneal dystrophy (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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