dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 1237515001

Production

add

Component

1237515001

The component that hold information about this concept.

Fully Specified Name (FSN)

Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)

Shortest Term

Alkaline ceramidase 3 deficiency

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

Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)

SCTID: 1237515001, Primitive, Active

1237515001|Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)|

en Acer3-related early childhood-onset progressive leucodystrophy
en Acer3-related early childhood-onset progressive leukodystrophy
en Alkaline ceramidase 3 deficiency
en Leucodystrophy due to alkaline ceramidase 3 deficiency
en Leukodystrophy due to alkaline ceramidase 3 deficiency
en Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)

Expression

1237515001 |Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)|
 <<< 106018006 |Hereditary degenerative disease of central nervous system (disorder)| + 
192781003 |Leukodystrophy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1821000146108 |Hereditary metabolic disease (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5099601018 - ACER3-related early childhood-onset progressive leucodystrophy (en) View
5099601018	en	Synonym (core metadata concept)	ACER3-related early childhood-onset progressive leucodystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5099599015 - ACER3-related early childhood-onset progressive leukodystrophy (en) View
5099599015	en	Synonym (core metadata concept)	ACER3-related early childhood-onset progressive leukodystrophy	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5099598011 - Alkaline ceramidase 3 deficiency (en) View
5099598011	en	Synonym (core metadata concept)	Alkaline ceramidase 3 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5099602013 - Leucodystrophy due to alkaline ceramidase 3 deficiency (en) View
5099602013	en	Synonym (core metadata concept)	Leucodystrophy due to alkaline ceramidase 3 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5099600017 - Leukodystrophy due to alkaline ceramidase 3 deficiency (en) View
5099600017	en	Synonym (core metadata concept)	Leukodystrophy due to alkaline ceramidase 3 deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
5099597018 - Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder) (en) View
5099597018	en	Fully specified name (core metadata concept)	Leukodystrophy due to alkaline ceramidase 3 deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15298190024) - 1237515001 -> 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 (15298191023) - 1237515001 -> 192781003 (116680003) View
116680003 \|Is a (attribute)\|	192781003 \|Leukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15298193021) - 1237515001 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15298194026) - 1237515001 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15298195025) - 1237515001 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15298196029) - 1237515001 -> 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 (15298197022) - 1237515001 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15298198028) - 1237515001 -> 1821000146108 (116680003) View
116680003 \|Is a (attribute)\|	1821000146108 \|Hereditary metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1821000146108 View
1821000146108	Hereditary metabolic disease (disorder)	Hereditary metabolic disease	900000000000074008 \|Necessary but not sufficient concept 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

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 (82bc9578-d5cc-5272-8b9b-465f0349832e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.2	TRUE	ALWAYS E75.2 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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 1237515001

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches