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726608002: Autosomal recessive spastic paraplegia type 23 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3450937012 Autosomal recessive spastic paraplegia type 23 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3450938019 Autosomal recessive spastic paraplegia type 23 en Synonym Active Case insensitive SNOMED CT core
3450939010 Lison syndrome en Synonym Active Case sensitive SNOMED CT core
3450940012 Spastic paraparesis, vitiligo, premature graying, characteristic facies syndrome en Synonym Active Case insensitive SNOMED CT core
3450941011 Spastic paraparesis, vitiligo, premature greying, characteristic facies syndrome en Synonym Active Case insensitive SNOMED CT core
4611839016 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. en Definition Active Case sensitive SNOMED CT core
4611840019 A rare complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature greying of hair and characteristic facies (i.e. thin with sharp features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 23 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 23 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 23 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 23 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 23 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 23 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 Finding site Structure of lower limb false Inferred relationship Some
Autosomal recessive spastic paraplegia type 23 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 23 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 23 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 23 Finding site Structure of lower limb false Inferred relationship Some 2

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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