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723612001: Spinal muscular atrophy, Dandy-Walker malformation, cataract 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
3425260014 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3425261013 Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5403130015 A rare neurologic disease characterized by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403131016 A rare neurologic disease characterised by bilateral cataract, Dandy-Walker malformation, and childhood onset of distal spinal muscular atrophy. Patients present with progressively deteriorating symmetrical distal muscle weakness and atrophy of the lower limbs (and, to a much lesser degree, also the upper limbs) and decreased tendon reflexes in the lower and upper limbs. 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
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Dandy-Walker syndrome true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Distal spinal muscular atrophy true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Congenital anterior polar cataract true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Aplasia false Inferred relationship Some 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital anomaly false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Structure of anterior pole of lens false Inferred relationship Some 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Some 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Brain cerebrospinal fluid pathway false Inferred relationship Some 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Infratentorial brain structure (body structure) false Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Structure of anterior pole of lens true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Some 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Fourth ventricle structure false Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital malrotation (morphologic abnormality) true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Some 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Cataract false Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Cystic dilatation (morphologic abnormality) true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Some 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Some 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Infratentorial brain structure (body structure) true Inferred relationship Some 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Chronic brain syndrome true Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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