dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 44359008

Production

add

Component

44359008

The component that hold information about this concept.

Fully Specified Name (FSN)

Metachromatic leukodystrophy, juvenile type (disorder)

Shortest Term

Scholz cerebral sclerosis

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 leukodystrophy, juvenile type (disorder)

SCTID: 44359008, Primitive, Active

44359008|Metachromatic leukodystrophy, juvenile type (disorder)|

en Juvenile metachromatic leucodystrophy
en Metachromatic leucodystrophy, juvenile type
en Metachromatic leukodystrophy, juvenile type
en Metachromatic leukodystrophy, juvenile type (disorder)
en Scholz-bielschowsky-henneberg diffuse cerebral sclerosis
en Scholz cerebral sclerosis

Expression

44359008 |Metachromatic leukodystrophy, juvenile type (disorder)|
 <<< 396338004 |Metachromatic leucodystrophy (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
493868014 - Juvenile metachromatic leucodystrophy (en) View
493868014	en	Synonym (core metadata concept)	Juvenile metachromatic leucodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
493866013 - Metachromatic leucodystrophy, juvenile type (en) View
493866013	en	Synonym (core metadata concept)	Metachromatic leucodystrophy, juvenile type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
73989014 - Metachromatic leukodystrophy, juvenile type (en) View
73989014	en	Synonym (core metadata concept)	Metachromatic leukodystrophy, juvenile type	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
781478019 - Metachromatic leukodystrophy, juvenile type (disorder) (en) View
781478019	en	Fully specified name (core metadata concept)	Metachromatic leukodystrophy, juvenile type (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
493867016 - Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis (en) View
493867016	en	Synonym (core metadata concept)	Scholz-Bielschowsky-Henneberg diffuse cerebral sclerosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
493869018 - Scholz cerebral sclerosis (en) View
493869018	en	Synonym (core metadata concept)	Scholz cerebral sclerosis	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686651021) - 44359008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587906029) - 44359008 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587907022) - 44359008 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15587908028) - 44359008 -> 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 (15587909020) - 44359008 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (782899022) - 44359008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (220258026) - 44359008 -> 238031009 (116680003) View
116680003 \|Is a (attribute)\|	238031009 \|Arylsulfatase a deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2228166020) - 44359008 -> 396338004 (116680003) View
116680003 \|Is a (attribute)\|	396338004 \|Metachromatic leucodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (782900028) - 44359008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
396338004 View
396338004	Metachromatic leucodystrophy (disorder)	Mld	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (39f50820-f8ff-5a94-a823-c1d597ef4917) 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)\|

Terminology chevron_right Concepts chevron_right 44359008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches