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Terminology chevron_right Concepts chevron_right 238028008

Production

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Component

238028008

The component that hold information about this concept.

Fully Specified Name (FSN)

Sphingolipidosis (disorder)

Shortest Term

Sphingolipidosis

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

Sphingolipidosis (disorder)

SCTID: 238028008, Primitive, Active

238028008|Sphingolipidosis (disorder)|

en Sphingolipidosis
en Sphingolipidosis (disorder)

Expression

238028008 |Sphingolipidosis (disorder)|
 <<< 238017009 |Disorder of lipid storage and metabolism (disorder)| + 
28821000119102 |Lysosomal storage disease (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356771012 - Sphingolipidosis (en) View
356771012	en	Synonym (core metadata concept)	Sphingolipidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626850015 - Sphingolipidosis (disorder) (en) View
626850015	en	Fully specified name (core metadata concept)	Sphingolipidosis (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15686657020) - 238028008 -> 28821000119102 (116680003) View
116680003 \|Is a (attribute)\|	28821000119102 \|Lysosomal storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15686658026) - 238028008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527086020) - 238028008 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527087027) - 238028008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53678025) - 238028008 -> 238017009 (116680003) View
116680003 \|Is a (attribute)\|	238017009 \|Disorder of lipid storage and metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
28821000119102 View
28821000119102	Lysosomal storage disease (disorder)	Lysosomal storage disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238017009 View
238017009	Disorder of lipid storage and metabolism (disorder)	Disorder of lipid storage and metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
763348005 View
763348005	Autosomal recessive cerebellar ataxia with late-onset spasticity (disorder)	Autosomal recessive cerebellar ataxia with late-onset spasticity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720864008 View
720864008	Encephalopathy due to prosaposin deficiency (disorder)	Combined saposin deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
396338004 View
396338004	Metachromatic leucodystrophy (disorder)	Mld	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
58459009 View
58459009	Sphingomyelin/cholesterol lipidosis (disorder)	Sphingolipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16652001 View
16652001	Fabry's disease (disorder)	Fabry disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
54898003 View
54898003	Multiple sulfatase deficiency (disorder)	Mucosulfatidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190794006 View
190794006	Glucosylceramide beta-glucosidase deficiency (disorder)	Gaucher disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
192782005 View
192782005	Galactosylceramide beta-galactosidase deficiency (disorder)	Krabbe disease	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 (8a577576-de26-5732-b980-f8a2af95ed16) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.3	TRUE	ALWAYS E75.3	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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