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782747000: autosomaal recessieve spastische paraplegie type 66 (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755578010 Autosomal recessive spastic paraplegia type 66 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3755579019 Autosomal recessive spastic paraplegia type 66 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8050851000146110 autosomaal recessieve spastische paraplegie type 66 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050861000146113 SPG66 nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8050871000146119 autosomaal recessieve spastische paraplegie type 66 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8735501000146119 autosomaal recessieve spastische paraparese type 66 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3755580016 Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder with characteristics of infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging. 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 66 Occurrence Congenital false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Is a Autosomal recessive hereditary disorder false Inferred relationship Some
Autosomal recessive spastic paraplegia type 66 Is a Complicated hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 66 Occurrence Congenital false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 66 Finding site Spinal cord structure true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 66 Associated morphology degeneratie (afwijkende morfologie) false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 66 Finding site Lower limb structure false Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Associated morphology Degenerative abnormality true Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 66 Is a Autosomal recessive hereditary spastic paraplegia true Inferred relationship Some
Autosomal recessive spastic paraplegia type 66 Clinical course Progressive (qualifier value) true Inferred relationship Some 3
Autosomal recessive spastic paraplegia type 66 Interprets Movement true Inferred relationship Some 6
Autosomal recessive spastic paraplegia type 66 Finding site Structure of right lower limb (body structure) true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Finding site Structure of left lower limb (body structure) true Inferred relationship Some 5
Autosomal recessive spastic paraplegia type 66 Interprets Movement observable true Inferred relationship Some 4
Autosomal recessive spastic paraplegia type 66 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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