Niemann-Pick disease, type A 52165006

SNOMED CT code

SNOMED code

52165006

name

Niemann-Pick disease, type A

status

active

date introduced

2002-01-31

fully specified name(s)

Niemann-Pick disease, type A (disorder)

synonyms

Niemann-Pick disease neuropathic type
Niemann-Pick disease type A
Niemann-Pick disease, type A
Niemann-Pick disease, acute neuropathic form
Classical Niemann-Pick disease
Niemann-Pick disease, acute neurovisceral form

attributes - group1

Occurrence

Congenital 255399007

attributes - group2

Finding site

Nervous system structure 25087005

parents

Inherited metabolic disorder of nervous system 128190004
Sphingomyelin/cholesterol lipidosis 58459009

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Inherited metabolic disorder of nervous system 128190004
Niemann-Pick disease, type A 52165006

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Disorder of lysosomal enzyme 23585005
Lipid storage disease 10741005
Sphingomyelin/cholesterol lipidosis 58459009
Niemann-Pick disease, type A 52165006

ancestors

sorted most to least specific

Inherited metabolic disorder of nervous system 128190004
Sphingomyelin/cholesterol lipidosis 58459009
Hereditary disorder of nervous system 363235000
Lipid storage disease 10741005
Lipoidosis 11455007
Sphingolipidosis 238028008
Autosomal recessive hereditary disorder 85995004
Disorder of nervous system 118940003
Disorder of lysosomal enzyme 23585005
Hereditary disorder by system 363137000
Disorder of lipid storage and metabolism 238017009
Autosomal hereditary disorder 1899006
Lysosomal storage disease 28821000119102
Disorder of body system 362965005
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Enzymopathy 78548001
Storage disease 34420000
Inborn error of metabolism 86095007
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

Inborn error of metabolism 86095007

Inherited metabolic disorder of nervous system 128190004

Niemann-Pick disease, type A 52165006

SNOMED CT code