Neuronal ceroid lipofuscinosis type 6A 1296784002

SNOMED CT code

SNOMED code

1296784002

name

Neuronal ceroid lipofuscinosis type 6A

status

active

date introduced

2023-12-01

fully specified name(s)

Neuronal ceroid lipofuscinosis type 6A (disorder)

synonyms

CLN6-related neuronal ceroid lipofuscinosis type 6A
CLN6 transmembrane ER protein-related neuronal ceroid lipofuscinosis type 6A
Neuronal ceroid lipofuscinosis type 6A
vLINCL - variant late infantile neuronal ceroid lipofuscinosis

attributes - group2

Occurrence

Congenital 255399007

attributes - group1

Finding site

Nervous system structure 25087005

Associated morphology

Degenerative abnormality 107669003

parents

Infantile neuronal ceroid lipofuscinosis 58258004
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Neuronal ceroid lipofuscinosis 42012007
Infantile neuronal ceroid lipofuscinosis 58258004
Neuronal ceroid lipofuscinosis type 6A 1296784002

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Neuronal ceroid lipofuscinosis type 6A 1296784002

ancestors

sorted most to least specific

Infantile neuronal ceroid lipofuscinosis 58258004
Autosomal recessive hereditary disorder 85995004
Neuronal ceroid lipofuscinosis 42012007
Autosomal hereditary disorder 1899006
Inherited metabolic disorder of nervous system 128190004
Lipofuscinosis 14210003
Lysosomal storage disease 28821000119102
Degenerative disorder 362975008
Hereditary disorder of nervous system 363235000
Disorder of lysosomal enzyme 23585005
Storage disease 34420000
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Disorder of nervous system 118940003
Inborn error of metabolism 86095007
Hereditary disorder by system 363137000
Enzymopathy 78548001
Disorder of body system 362965005
Congenital disease 66091009
Hereditary metabolic disease 1821000146108
Hereditary disease 32895009
Metabolic disease 75934005
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Degenerative disorder 362975008

Neuronal ceroid lipofuscinosis 42012007

Infantile neuronal ceroid lipofuscinosis 58258004

Neuronal ceroid lipofuscinosis type 6A 1296784002

SNOMED CT code