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Terminology chevron_right Concepts chevron_right 238030005

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Component

238030005

The component that hold information about this concept.

Fully Specified Name (FSN)

Galactocerebroside beta-galactosidase deficiency - early onset (disorder)

Shortest Term

Infantile krabbe disease

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

Galactocerebroside beta-galactosidase deficiency - early onset (disorder)

SCTID: 238030005, Primitive, Active

238030005|Galactocerebroside beta-galactosidase deficiency - early onset (disorder)|

en Galactocerebroside beta-galactosidase deficiency - early onset
en Galactocerebroside beta-galactosidase deficiency - early onset (disorder)
en Infantile krabbe disease

Expression

238030005 |Galactocerebroside beta-galactosidase deficiency - early onset (disorder)|
 <<< 192782005 |Galactosylceramide beta-galactosidase deficiency (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 125495003 |Myelin sheath alteration (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 54115001 |Myelinated nerve fiber structure (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 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)| = 3658006 |Infancy (qualifier value)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356773010 - Galactocerebroside beta-galactosidase deficiency - early onset (en) View
356773010	en	Synonym (core metadata concept)	Galactocerebroside beta-galactosidase deficiency - early onset	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626852011 - Galactocerebroside beta-galactosidase deficiency - early onset (disorder) (en) View
626852011	en	Fully specified name (core metadata concept)	Galactocerebroside beta-galactosidase deficiency - early onset (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356775015 - Globoid cell leucodystrophy, early onset (en) View
356775015	en	Synonym (core metadata concept)	Globoid cell leucodystrophy, early onset	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
356776019 - Globoid cell leukodystrophy, early onset (en) View
356776019	en	Synonym (core metadata concept)	Globoid cell leukodystrophy, early onset	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
356774016 - Infantile Krabbe disease (en) View
356774016	en	Synonym (core metadata concept)	Infantile Krabbe disease	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686659023) - 238030005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (53679022) - 238030005 -> 238028008 (116680003) View
116680003 \|Is a (attribute)\|	238028008 \|Sphingolipidosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12069699022) - 238030005 -> 192782005 (116680003) View
116680003 \|Is a (attribute)\|	192782005 \|Galactosylceramide beta-galactosidase deficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069700023) - 238030005 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069701022) - 238030005 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069702026) - 238030005 -> 125495003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125495003 \|Myelin sheath alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069703020) - 238030005 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069704025) - 238030005 -> 54115001 (363698007) View
363698007 \|Finding site (attribute)\|	54115001 \|Myelinated nerve fiber structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12069705029) - 238030005 -> 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 (527089029) - 238030005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527088021) - 238030005 -> 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
192782005 View
192782005	Galactosylceramide beta-galactosidase deficiency (disorder)	Krabbe disease	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 (b980b3a2-470c-5bbf-94e0-a9998535ca69) 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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