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723621000: Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder)


Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3425296013 Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3425297016 Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3425298014 Spastic quadriplegia, retinitis pigmentosa, intellectual disability syndrome en Synonym Active Case insensitive SNOMED CT core
3425299018 This syndrome has characteristics of nonprogressive spastic paraplegia, retinitis pigmentosa and intellectual deficit. It has been described in two brothers born to consanguineous parents. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets Intellectual ability false Inferred relationship Some 5
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 5
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets Adaptation behaviour false Inferred relationship Some 6
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Has interpretation Impaired false Inferred relationship Some 6
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets Movement observable true Inferred relationship Some 6
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Has interpretation Absent true Inferred relationship Some 6
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets Adaptation behaviour true Inferred relationship Some 5
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets Intellectual ability true Inferred relationship Some 8
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Has interpretation Impaired true Inferred relationship Some 8
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Interprets Movement true Inferred relationship Some 7
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a Intellectual disability false Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a Spastic tetraplegia true Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a Autosomal recessive retinitis pigmentosa true Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Finding site Structure of central nervous system true Inferred relationship Some 1
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Finding site Limb structure true Inferred relationship Some 4
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Associated morphology Dystrophy true Inferred relationship Some 3
Spastic tetraplegia, retinitis pigmentosa, intellectual disability syndrome Finding site Retinal structure true Inferred relationship Some 3
Spastic tetraplegia, retinitis pigmentosa, 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

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