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733455003: Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder)


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3499467013 Spastic paraplegia, glaucoma, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic paraplegia, glaucoma, intellectual disability syndrome Pathological process Pathological developmental process false Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Associated morphology Degenerative abnormality true Inferred relationship Some 4
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 4
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Eye structure false Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Chronic mental disorder false Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Clinical course Progressive true Inferred relationship Some 3
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Glaucoma true Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Eye structure true Inferred relationship Some 1
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Structure of lower limb false Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Spastic paraplegia, glaucoma, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Some 6
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 6
Spastic paraplegia, glaucoma, intellectual disability syndrome Interprets Adaptation behaviour true Inferred relationship Some 7
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 7
Spastic paraplegia, glaucoma, intellectual disability syndrome Interprets Movement true Inferred relationship Some 8
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Structure of right lower limb true Inferred relationship Some 2
Spastic paraplegia, glaucoma, intellectual disability syndrome Interprets Movement observable true Inferred relationship Some 10
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Structure of left lower limb true Inferred relationship Some 9
Spastic paraplegia, glaucoma, intellectual disability syndrome Has interpretation Absent true Inferred relationship Some 10
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Intellectual disability false Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Congenital glaucoma false Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Hereditary disorder of the visual system true Inferred relationship Some
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 3
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Eye structure false Inferred relationship Some 3
Spastic paraplegia, glaucoma, intellectual disability syndrome Associated morphology Degeneration false Inferred relationship Some 4
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Spinal cord structure true Inferred relationship Some 4
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Cerebellar structure false Inferred relationship Some 4
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 5
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Structure of lower limb false Inferred relationship Some 5
Spastic paraplegia, glaucoma, intellectual disability syndrome Associated morphology Degeneration false Inferred relationship Some 1
Spastic paraplegia, glaucoma, intellectual disability syndrome Occurrence Congenital false Inferred relationship Some 1
Spastic paraplegia, glaucoma, intellectual disability syndrome Finding site Spinal cord structure false Inferred relationship Some 1
Spastic paraplegia, glaucoma, intellectual disability syndrome Is a Intellectual disability true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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