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723821002: Autosomal recessive spastic paraplegia type 44 (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
3426263016 Autosomal recessive spastic paraplegia type 44 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426264010 Autosomal recessive spastic paraplegia type 44 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3426265011 A very rare, complex form of hereditary spastic paraplegia characterized by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leukodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3426266012 A very rare, complex form of hereditary spastic paraplegia characterised by a late-onset, slowly progressive spastic paraplegia associated with mild ataxia and dysarthria, upper extremity involvement (i.e. loss of finger dexterity, dysmetria), and mild cognitive impairment, without the presence of nystagmus. A hypomyelinating leucodystrophy and thin corpus callosum is observed in all cases and psychomotor development is normal or near normal. Caused by mutations in the GJC2 gene (1q41-q42) encoding the gap junction gamma-2 protein. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
968281000172116 SPG44 - spastic paraplegia type 44 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
978871000172111 paraplégie spastique autosomique récessive type 44 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)
887601000172115 SPG44 - spastische paraplegie type 44 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
897361000172111 autosomaal recessieve spastische paraplegie type 44 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Autosomal recessive spastic paraplegia type 44 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) Occurrence Congenital false Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) Associated morphology Degeneration false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Spinal cord structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Cerebellar structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 44 (disorder) Associated morphology Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 44 (disorder) Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 44 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Lower limb structure (body structure) false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 44 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 44 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 44 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 44 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 44 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 44 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 44 (disorder) Has interpretation Absent true Inferred relationship Some 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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