Metachromatic leukodystrophy 396338004

SNOMED CT code

SNOMED code

396338004

name

Metachromatic leukodystrophy

status

active

date introduced

2003-07-31

fully specified name(s)

Metachromatic leucodystrophy (disorder)

synonyms

Metachromatic leukodystrophy
Sulphatide lipidosis
Sulfatide lipidosis
Metachromatic leucodystrophy
Metachromatic leukoencephaly
van Bogaert-Nijssen disease
Familial progressive cerebral sclerosis
MLD - Metachromatic leucodystrophy

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

Hereditary degenerative disease of central nervous system 106018006
Inherited metabolic disorder of nervous system 128190004
Leukodystrophy 192781003
Sphingolipidosis 238028008
Autosomal recessive hereditary disorder 85995004

children

Arylsulfatase A deficiency 238031009
Dystonia due to metachromatic leucodystrophy 1260391004
Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator 297278001
Metachromatic leukodystrophy due to sphingolipid activator protein I deficiency 1003375005
Metachromatic leukodystrophy without arylsulfatase deficiency 83832001
Metachromatic leukodystrophy, adult type 24326000
Metachromatic leukodystrophy, congenital type 40802007
Metachromatic leukodystrophy, juvenile type 44359008
Metachromatic leukodystrophy, late infantile type 47683004
Sphingolipid activator protein 1 deficiency 68390005

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Degenerative disorder 362975008
Degenerative disease of the central nervous system 80690008
Hereditary degenerative disease of central nervous system 106018006
Metachromatic leukodystrophy 396338004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Inherited metabolic disorder of nervous system 128190004
Metachromatic leukodystrophy 396338004

SNOMED CT Concept 138875005
Clinical finding 404684003
Neurological lesion 299735001
Leukodystrophy 192781003
Metachromatic leukodystrophy 396338004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Disorder of lipid storage and metabolism 238017009
Sphingolipidosis 238028008
Metachromatic leukodystrophy 396338004

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
Metachromatic leukodystrophy 396338004

ancestors

sorted most to least specific

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

Disease 64572001

Degenerative disorder 362975008

Degenerative disease of the central nervous system 80690008

Hereditary degenerative disease of central nervous system 106018006

Metachromatic leukodystrophy 396338004

SNOMED CT code