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Terminology chevron_right Concepts chevron_right 10741005

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Component

10741005

The component that hold information about this concept.

Fully Specified Name (FSN)

Lipid storage disease (disorder)

Shortest Term

Lipidoses

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

Lipid storage disease (disorder)

SCTID: 10741005, Primitive, Active

10741005|Lipid storage disease (disorder)|

en Lipidoses
en Lipidosis
en Lipid storage disease
en Lipid storage disease (disorder)

Expression

10741005 |Lipid storage disease (disorder)|
 <<< 238017009 |Disorder of lipid storage and metabolism (disorder)| + 
23585005 |Disorder of lysosomal enzyme (disorder)| + 
86095007 |Inborn error of metabolism (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3010913012 - Lipidoses (en) View
3010913012	en	Synonym (core metadata concept)	Lipidoses	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
18659016 - Lipidosis (en) View
18659016	en	Synonym (core metadata concept)	Lipidosis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
18656011 - Lipid storage disease (en) View
18656011	en	Synonym (core metadata concept)	Lipid storage disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
590743014 - Lipid storage disease (disorder) (en) View
590743014	en	Fully specified name (core metadata concept)	Lipid storage disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
18658012 - Lipidosis, NOS (en) View
18658012	en	Synonym (core metadata concept)	Lipidosis, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False
18657019 - Lipid storage disease, NOS (en) View
18657019	en	Synonym (core metadata concept)	Lipid storage disease, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16384206028) - 10741005 -> 86095007 (116680003) View
116680003 \|Is a (attribute)\|	86095007 \|Inborn error of metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470144022) - 10741005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (470145023) - 10741005 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (23753021) - 10741005 -> 238017009 (116680003) View
116680003 \|Is a (attribute)\|	238017009 \|Disorder of lipid storage and metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (23754026) - 10741005 -> 23585005 (116680003) View
116680003 \|Is a (attribute)\|	23585005 \|Disorder of lysosomal enzyme (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
23585005 View
23585005	Disorder of lysosomal enzyme (disorder)	Lysosomal enzyme defect	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
86095007 View
86095007	Inborn error of metabolism (disorder)	Inborn error of metabolism	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
1279844009 View
1279844009	Primary triglyceride deposit cardiomyovasculopathy (disorder)	Primary triglyceride deposit cardiomyovasculopathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1256077007 View
1256077007	Xanthoma due to lipid storage disease (disorder)	Xanthoma due to lipid storage disease	900000000000073002 \|Sufficiently defined by necessary conditions 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
15059000 View
15059000	Retinal dystrophy in systemic lipidosis (disorder)	Retinal dystrophy in systemic lipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
16517004 View
16517004	Cerebral lipidosis (disorder)	Cerebral lipidosis	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
19604005 View
19604005	Triglyceride storage disease with ichthyosis (disorder)	Chanarin-dorfman disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
70199000 View
70199000	I-cell disease (disorder)	I-cell disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
87074006 View
87074006	Salla disease (disorder)	Salla disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111382002 View
111382002	Chemically-induced lipidosis (disorder)	Chemically induced lipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
192788009 View
192788009	Retinal dystrophy in cerebroretinal lipidosis (disorder)	Retinal dystrophy in cerebroretinal lipidosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
233720006 View
233720006	Pulmonary lipid storage disease (disorder)	Bệnh phổi nhiễm mỡ	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238074007 View
238074007	Xanthomatosis, familial (disorder)	Xanthomatosis, familial	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
240095001 View
240095001	Lipid storage myopathy (disorder)	Lipid storage myopathy	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 (7b9963bf-3da6-5693-bc46-d400165cb590) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E75.6	TRUE	ALWAYS E75.6	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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