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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
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
3425262018 Syndrome with characteristics of infantile symmetrical distal muscle weakness and atrophy of the lower limbs, bilateral anterior polar cataracts and Dandy-Walker malformation. It has been described in two brothers. No sensorineural or cognitive deficits were observed. The karyotypes of the two patients were normal. No mutations were found in the survival motor neurone (SMN), neuronal apoptosis inhibitory protein (NAIP) or androgen receptor genes. en Definition Active Entire term case sensitive (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
602621000274111 Syndrom mit spinaler Muskelatrophie, Dandy-Walker-Malformation und Katarakten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421791001000118 Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938831000172111 syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
938831000172111 syndrome d'amyotrophie spinale-malformation de Dandy-Walker-cataracte fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
602621000274111 Syndrom mit spinaler Muskelatrophie, Dandy-Walker-Malformation und Katarakten de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3421791001000118 Spinale Muskelatrophie - Dandy-Walker-Malformation - Katarakte 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
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Dandy-Walker syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Distal spinal muscular atrophy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Congenital anterior polar cataract true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Aplasia false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Lateral aperture of fourth ventricle false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Foramen of Magendie false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cataract false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Structure of anterior pole of lens false Inferred relationship Existential restriction modifier (core metadata concept) 7
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital dilatation false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Structure of brain cerebrospinal fluid pathway (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 9
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 8
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Infratentorial brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Structure of anterior pole of lens true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital cavitation false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Fourth ventricle structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Congenital malrotation true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Cerebellar vermis structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Cataract false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Cystic dilatation true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Associated morphology Opacity true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Fourth ventricle structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Finding site Infratentorial brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 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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