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763070001: autosomaal dominante spastische paraplegie type 42 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3637770011 Autosomal dominant spastic paraplegia type 42 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3637771010 Autosomal dominant spastic paraplegia type 42 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
6148291000146116 autosomaal dominante spastische paraplegie type 42 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6148301000146117 autosomaal dominante spastische paraplegie type 42 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6699951000146118 SPG42 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3637772015 A pure form of hereditary spastic paraplegia with characteristics of slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging. 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 dominant spastic paraplegia type 42 Is a Pure hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 42 Is a Autosomal dominant hereditary spastic paraplegia true Inferred relationship Some
Autosomal dominant spastic paraplegia type 42 Occurrence Congenital false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Occurrence Congenital false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 Finding site Spinal cord structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Finding site Lower limb structure false Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Associated morphology Degenerative abnormality false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal dominant spastic paraplegia type 42 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal dominant spastic paraplegia type 42 Interprets Movement true Inferred relationship Some 6
Autosomal dominant spastic paraplegia type 42 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 4
Autosomal dominant spastic paraplegia type 42 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal dominant spastic paraplegia type 42 Interprets Movement observable true Inferred relationship Some 2
Autosomal dominant spastic paraplegia type 42 Has interpretation Absent true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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