Arylsulfatase A deficiency 238031009

SNOMED CT code

SNOMED code

238031009

name

Arylsulfatase A deficiency

status

active

date introduced

2002-01-31

fully specified name(s)

Arylsulfatase A deficiency (disorder)

synonyms

Severe deficiency of arylsulfatase
Severe deficiency of arylsulphatase
Arylsulfatase A deficiency
Cerebroside sulphatase deficiency
ARSA - Arylsulphatase A deficiency
ARSA - Arylsulfatase A deficiency
Cerebroside sulfatase deficiency
Arylsulphatase A deficiency

attributes - group1

Finding site

Myelinated nerve fiber structure 54115001

Associated morphology

Myelin sheath alteration 125495003

attributes - group2

Finding site

White matter structure of brain and spinal cord 389080008

Associated morphology

Dystrophy 4720007

attributes - group3

Occurrence

Congenital 255399007

parents

Metachromatic leukodystrophy 396338004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Neurological lesion 299735001
Leukodystrophy 192781003
Metachromatic leukodystrophy 396338004
Arylsulfatase A deficiency 238031009

ancestors

sorted most to least specific

Metachromatic leukodystrophy 396338004
Hereditary degenerative disease of central nervous system 106018006
Inherited metabolic disorder of nervous system 128190004
Leukodystrophy 192781003
Sphingolipidosis 238028008
Autosomal recessive hereditary disorder 85995004
Hereditary disorder of nervous system 363235000
Neurological lesion 299735001
Disorder of lipid storage and metabolism 238017009
Autosomal hereditary disorder 1899006
Degenerative disease of the central nervous system 80690008
Neuropathy 386033004
Lysosomal storage disease 28821000119102
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Disorder of the central nervous system 23853001
Hereditary disorder by system 363137000
Storage disease 34420000
Degenerative disorder 362975008
Enzymopathy 78548001
Disorder of nervous system 118940003
Inborn error of metabolism 86095007
Central nervous system finding 246556002
Disorder of body system 362965005
Hereditary metabolic disease 1821000146108
Congenital disease 66091009
Metabolic disease 75934005
Hereditary disease 32895009
Genetic disease 782964007
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Neurological lesion 299735001

Leukodystrophy 192781003

Metachromatic leukodystrophy 396338004

Arylsulfatase A deficiency 238031009

SNOMED CT code