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Terminology chevron_right Concepts chevron_right 396338004

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Component

396338004

The component that hold information about this concept.

Fully Specified Name (FSN)

Metachromatic leucodystrophy (disorder)

Shortest Term

Mld

Definition Status

900000000000074008 |Necessary but not sufficient concept definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Metachromatic leucodystrophy (disorder)

SCTID: 396338004, Primitive, Active

396338004|Metachromatic leucodystrophy (disorder)|

en Van bogaert-nijssen disease
en Familial progressive cerebral sclerosis
en Metachromatic leucodystrophy
en Metachromatic leucodystrophy (disorder)
en Metachromatic leukodystrophy
en Metachromatic leukoencephaly
en Sulfatide lipidosis
en Sulphatide lipidosis
en Mld - metachromatic leucodystrophy

Expression

396338004 |Metachromatic leucodystrophy (disorder)|
 <<< 238028008 |Sphingolipidosis (disorder)| + 
106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
192781003 |Leukodystrophy (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 389080008 |White matter structure of brain and spinal cord (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1785556011 - MLD (en) View
1785556011	en	Synonym (core metadata concept)	MLD	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
1785559016 - van Bogaert-Nijssen disease (en) View
1785559016	en	Synonym (core metadata concept)	van Bogaert-Nijssen disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1785560014 - Familial progressive cerebral sclerosis (en) View
1785560014	en	Synonym (core metadata concept)	Familial progressive cerebral sclerosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1785557019 - Metachromatic leucodystrophy (en) View
1785557019	en	Synonym (core metadata concept)	Metachromatic leucodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1764255014 - Metachromatic leucodystrophy (disorder) (en) View
1764255014	en	Fully specified name (core metadata concept)	Metachromatic leucodystrophy (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1776290017 - Metachromatic leukodystrophy (en) View
1776290017	en	Synonym (core metadata concept)	Metachromatic leukodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1785558012 - Metachromatic leukoencephaly (en) View
1785558012	en	Synonym (core metadata concept)	Metachromatic leukoencephaly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1783953013 - Sulfatide lipidosis (en) View
1783953013	en	Synonym (core metadata concept)	Sulfatide lipidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1783561011 - Sulphatide lipidosis (en) View
1783561011	en	Synonym (core metadata concept)	Sulphatide lipidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1785561013 - MLD - Metachromatic leucodystrophy (en) View
1785561013	en	Synonym (core metadata concept)	MLD - Metachromatic leucodystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686664022) - 396338004 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15686665023) - 396338004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587922028) - 396338004 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587923022) - 396338004 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587924027) - 396338004 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587925026) - 396338004 -> 389080008 (363698007) View
363698007 \|Finding site (attribute)\|	389080008 \|White matter structure of brain and spinal cord (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587926025) - 396338004 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15588453023) - 396338004 -> 106018006 (116680003) View
116680003 \|Is a (attribute)\|	106018006 \|Hereditary degenerative disease of central nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15588454028) - 396338004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2280127023) - 396338004 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2240867022) - 396338004 -> 238028008 (116680003) View
116680003 \|Is a (attribute)\|	238028008 \|Sphingolipidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
106018006 View
106018006	Hereditary degenerative disease of central nervous system (disorder)	Hereditary degenerative disease of central nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
192781003 View
192781003	Leukodystrophy (disorder)	Leucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238028008 View
238028008	Sphingolipidosis (disorder)	Sphingolipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1260391004 View
1260391004	Dystonia due to metachromatic leucodystrophy (disorder)	Dystonia due to metachromatic leucodystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1003375005 View
1003375005	Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency (disorder)	Metachromatic leukodystrophy due to sphingolipid activator protein i deficiency	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
24326000 View
24326000	Metachromatic leukodystrophy, adult type (disorder)	Adult metachromatic leucodystrophy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
40802007 View
40802007	Metachromatic leukodystrophy, congenital type (disorder)	Metachromatic leucodystrophy, congenital type	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
44359008 View
44359008	Metachromatic leukodystrophy, juvenile type (disorder)	Scholz cerebral sclerosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
47683004 View
47683004	Metachromatic leukodystrophy, late infantile type (disorder)	Greenfield disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68390005 View
68390005	Sphingolipid activator protein 1 deficiency (disorder)	Saposin b deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
83832001 View
83832001	Metachromatic leukodystrophy without arylsulfatase deficiency (disorder)	Metachromatic leukodystrophy without arylsulfatase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238031009 View
238031009	Arylsulfatase a deficiency (disorder)	Arylsulfatase a deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
297278001 View
297278001	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator (disorder)	Metachromatic leukodystrophy due to deficiency of cerebroside sulfatase activator	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (2347f54e-5611-554a-9d5c-3245dc5a5c08) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	TRUE	ALWAYS E75.2	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447637006 \|Map source concept is properly classified (foundation metadata concept)\|

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