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782747000: Autosomal recessive spastic paraplegia type 66 (disorder)


Status: current, Primitive. 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 Active Case insensitive SNOMED CT core
3755579019 Autosomal recessive spastic paraplegia type 66 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
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 Case sensitive 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 Degeneration false Inferred relationship Some 1
Autosomal recessive spastic paraplegia type 66 Finding site Structure of lower limb 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 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 true Inferred relationship Some 2
Autosomal recessive spastic paraplegia type 66 Finding site Structure of left lower limb 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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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