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Terminology chevron_right Concepts chevron_right 28821000119102

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Language with ID “12688d88-dfcf-51a1-95cf-d5cf6b96133b” doesn’t exist. Perhaps it was deleted?

Component

28821000119102

The component that hold information about this concept.

Fully Specified Name (FSN)

Lysosomal storage disease (disorder)

Shortest Term

Lysosomal storage 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

Lysosomal storage disease (disorder)

SCTID: 28821000119102, Primitive, Active

28821000119102|Lysosomal storage disease (disorder)|

en Lysosomal storage disease
en Lysosomal storage disease (disorder)

Expression

28821000119102 |Lysosomal storage disease (disorder)|
 <<< 34420000 |Storage disease (disorder)| + 
78548001 |Enzymopathy (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
5234013014 - Lysosomal storage disease (en) View
5234013014	en	Synonym (core metadata concept)	Lysosomal storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5234012016 - Lysosomal storage disease (disorder) (en) View
5234012016	en	Fully specified name (core metadata concept)	Lysosomal storage disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15681280022) - 28821000119102 -> 34420000 (116680003) View
116680003 \|Is a (attribute)\|	34420000 \|Storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681281021) - 28821000119102 -> 78548001 (116680003) View
116680003 \|Is a (attribute)\|	78548001 \|Enzymopathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15681282025) - 28821000119102 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
34420000 View
34420000	Storage disease (disorder)	Thesaurosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78548001 View
78548001	Enzymopathy (disorder)	Enzymopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1155842003 View
1155842003	Oligosaccharidosis (disorder)	Oligosaccharidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715923003 View
715923003	Lysosomal acid lipase deficiency (disorder)	Lysosomal acid lipase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
419097006 View
419097006	Danon disease (disorder)	Danon disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11380006 View
11380006	Mucopolysaccharidosis (disorder)	Mucopolysaccharidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
42012007 View
42012007	Neuronal ceroid lipofuscinosis (disorder)	Cerebromacular dystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
50967008 View
50967008	Gangliosidosis (disorder)	Gangliosidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70528007 View
70528007	Mucolipidosis (disorder)	Mucolipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
190681003 View
190681003	Cystinosis (disorder)	Cystinosis	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
238050009 View
238050009	Disorder of sialic acid metabolism (disorder)	Disorder of sialic acid metabolism	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 (36ebf3fa-99e5-56aa-8994-f9cc2f587579) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E88.8	TRUE	ALWAYS E88.8	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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