Tay-Sachs disease 111385000

SNOMED CT code

SNOMED code

111385000

name

Tay-Sachs disease

status

active

date introduced

2002-01-31

fully specified name(s)

Tay-Sachs disease (disorder)

synonyms

Tay-Sachs disease
Severe hexosaminidase A deficiency
Amaurotic familial idiocy
Infantile amaurotic familial disease
Hexosaminidase A deficiency
GM2 gangliosidosis, B, B1 variant

attributes - group2

Finding site

Nervous system structure 25087005

attributes - group1

Occurrence

Congenital 255399007

parents

GM2 gangliosidosis 33316007
Autosomal recessive hereditary disorder 85995004

children

B variant hexosaminidase A deficiency 192787004
B1 variant hexosaminidase A deficiency 238024005
Tay-Sachs disease, variant AB 71253000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Disorder of lysosomal enzyme 23585005
Gangliosidosis 50967008
GM2 gangliosidosis 33316007
Tay-Sachs disease 111385000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Tay-Sachs disease 111385000

ancestors

sorted most to least specific

GM2 gangliosidosis 33316007
Autosomal recessive hereditary disorder 85995004
Gangliosidosis 50967008
Autosomal hereditary disorder 1899006
Inherited metabolic disorder of nervous system 128190004
Disorder of lysosomal enzyme 23585005
Disorder of lipid storage and metabolism 238017009
Lysosomal storage disease 28821000119102
Hereditary disorder of nervous system 363235000
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Storage disease 34420000
Enzymopathy 78548001
Disorder of nervous system 118940003
Inborn error of metabolism 86095007
Hereditary disorder by system 363137000
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

Congenital disease 66091009

Disorder of lysosomal enzyme 23585005

Gangliosidosis 50967008

GM2 gangliosidosis 33316007

Tay-Sachs disease 111385000

SNOMED CT code