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733455003: Spastic paraplegia, glaucoma, intellectual disability 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
3499466016 Spastic paraplegia, glaucoma, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499467013 Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403789016 Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403790013 Spastic paraplegia-glaucoma-intellectual disability syndrome is characterised by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3499466016 Spastic paraplegia, glaucoma, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3499467013 Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3500003016 Syndrome with characteristics of progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403789016 Spastic paraplegia-glaucoma-intellectual disability syndrome is characterized by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403790013 Spastic paraplegia-glaucoma-intellectual disability syndrome is characterised by progressive spastic paraplegia, glaucoma and intellectual deficit. It has been described in two families. The second described sibship was born to consanguineous parents. The mode of inheritance is autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
539121000274111 Syndrom mit spastischer Paraplegie, Grünem Star und Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603371000274110 Syndrom mit spastischer Paraplegie, Glaukom und Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444231001000113 Spastische Paraplegie - Glaukom - Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
913781000172116 syndrome de paraplégie spastique-glaucome-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
913781000172116 syndrome de paraplégie spastique-glaucome-déficience intellectuelle fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
539121000274111 Syndrom mit spastischer Paraplegie, Grünem Star und Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
603371000274110 Syndrom mit spastischer Paraplegie, Glaukom und Intelligenzminderung de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3444231001000113 Spastische Paraplegie - Glaukom - Intelligenzminderung 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
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a retard mental false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Angeborenes Glaukom false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Complicated hereditary spastic paraplegia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Spinal cord structure true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Cerebellar structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Associated morphology dégénérescence false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Spinal cord structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Associated morphology Degenerative abnormality (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Eye structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Chronic mental disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 3
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Is a Glaucoma (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Eye structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 6
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 7
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Interprets Movement true Inferred relationship Existential restriction modifier (core metadata concept) 8
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Interprets Movement observable true Inferred relationship Existential restriction modifier (core metadata concept) 10
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 9
Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) Has interpretation Absent true Inferred relationship Existential restriction modifier (core metadata concept) 10

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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