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726606003: Autosomal recessive spastic paraplegia type 32 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3450922013 Autosomal recessive spastic paraplegia type 32 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3450923015 Autosomal recessive spastic paraplegia type 32 en Synonym Active Case insensitive SNOMED CT core
3450924014 A rare complex type of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21. 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 32 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 Clinical course Progressive true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 32 Finding site Structure of right lower limb true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 32 Finding site Structure of left lower limb true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 32 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 32 Has interpretation Absent true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 32 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 Finding site Structure of lower limb false Inferred relationship Some
Autosomal recessive spastic paraplegia type 32 Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 32 Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 32 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 32 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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