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1172631001: autosomaal recessieve spastische paraplegie type 76 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4634876010 Autosomal recessive spastic paraplegia type 76 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4634878011 Autosomal recessive spastic paraplegia type 76 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
13111441000146116 autosomaal recessieve spastische paraplegie type 76 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13111451000146118 SPG76 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13111461000146115 autosomaal recessieve spastische paraplegie type 76 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4634877018 A rare complex hereditary spastic paraplegia with characteristics of adult onset slowly progressive mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration. 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 76 (disorder) Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) Is a Chronic paraplegia (disorder) false Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) Clinical course Progressive (qualifier value) true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 76 (disorder) Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) Finding site Spinal cord structure true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) Associated morphology Degenerative abnormality true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 76 (disorder) Occurrence Congenital false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 (disorder) Finding site Lower limb structure false Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 (disorder) Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 76 (disorder) Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 76 (disorder) Finding site Structure of right lower limb (body structure) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 76 (disorder) Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 76 (disorder) Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 76 (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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