Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 783198006

SNOMED CT code

SNOMED code

783198006

name

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

status

active

date introduced

2019-07-31

fully specified name(s)

Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation (disorder)

synonyms

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy due to tectonin beta-propeller repeat containing 2 mutation
Autosomal recessive spastic paraplegia type 49
Hereditary sensory and autonomic neuropathy due to TECPR2 (tectonin beta-propeller repeat containing 2) mutation

attributes - group1

Finding site

Spinal cord structure 2748008

Associated morphology

Degenerative abnormality 107669003

attributes - group3

Finding site

Nerve structure 3057000

attributes - group5

Finding site

Autonomic nervous system structure 72167002

attributes - group4

Finding site

Peripheral nervous system structure 3058005

attributes - group6

Clinical course

Progressive 255314001

attributes - group9

Interprets

Movement 255324009

attributes - group2

Finding site

Right lower extremity structure 62175007

attributes - group8

Finding site

Left lower extremity structure 32153003

attributes - group7

Interprets

Movement observable 363847004

Has interpretation

Absent 2667000

parents

Autosomal recessive hereditary spastic paraplegia 1187279003
Hereditary sensory and autonomic neuropathy 128205005
Complicated hereditary spastic paraplegia 230261006

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Autosomal recessive hereditary spastic paraplegia 1187279003
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 783198006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Neuropathy 386033004
Hereditary sensory and autonomic neuropathy 128205005
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 783198006

SNOMED CT Concept 138875005
Clinical finding 404684003
Central nervous system finding 246556002
Disorder of the central nervous system 23853001
Spastic syndrome 386781001
Spastic paraplegia 192967009
Hereditary spastic paraplegia 39912006
Complicated hereditary spastic paraplegia 230261006
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 783198006

ancestors

sorted most to least specific

Autosomal recessive hereditary spastic paraplegia 1187279003
Hereditary sensory and autonomic neuropathy 128205005
Complicated hereditary spastic paraplegia 230261006
Hereditary spastic paraplegia 39912006
Neuropathy 386033004
Autosomal recessive hereditary disorder 85995004
Hereditary peripheral neuropathy 65017003
Inherited autonomic nervous system disorder 722997000
Hereditary degenerative disease of central nervous system 106018006
Autosomal hereditary disorder 1899006
Spastic paraplegia 192967009
Chronic myelopathy 434371000124108
Chronic paraplegia 698292000
Disorder of autonomic nervous system 15241006
Disorder of the peripheral nervous system 42658009
Hereditary disorder of nervous system 363235000
Spastic syndrome 386781001
Chronic nervous system disorder 128283000
Degenerative disease of the central nervous system 80690008
Paraplegia 60389000
Myelopathy 48522003
Disorder of the central nervous system 23853001
Hereditary disorder by system 363137000
Complete bilateral paralysis 29188005
Chronic disease 27624003
Degenerative disorder 362975008
Bilateral lower limb paralytic syndrome 609553000
Finding of spinal cord 299733008
Disorder of spinal region 410730009
Disorder of nervous system 118940003
Hereditary disease 32895009
Central nervous system finding 246556002
Paralytic syndrome 29426003
Finding of spinal region 298379008
Disorder of right lower extremity 451421000124102
Disorder of left lower extremity 451431000124104
Disorder of back 33308003
Disorder of body system 362965005
Genetic disease 782964007
Paralysis 44695005
Finding of back 414252009
Disorder of lower limb 118937003
Movement disorder 60342002
Motor dysfunction 52559000
Finding of lower limb 116312005
Disorder of limb 128605003
Disease 64572001
Motor nervous system finding 106145009
Finding of limb structure 302293008
Finding of movement 298325004
Neurological finding 102957003
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal recessive hereditary disorder 85995004

Autosomal recessive hereditary spastic paraplegia 1187279003

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 783198006

SNOMED CT code