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726609005: Autosomal recessive spastic paraplegia type 64 (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
3450946018 Autosomal recessive spastic paraplegia type 64 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3450947010 Autosomal recessive spastic paraplegia type 64 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403544015 Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403545019 Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia, reported in only 4 patients from 2 families to date, characterised by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 64 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Lower limb structure false Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 64 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 64 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 64 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 64 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 64 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 64 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 64 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 64 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 64 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 64 (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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