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Terminology chevron_right Concepts chevron_right 238017009

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Component

238017009

The component that hold information about this concept.

Fully Specified Name (FSN)

Disorder of lipid storage and metabolism (disorder)

Shortest Term

Disorder of lipid storage and metabolism

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

Disorder of lipid storage and metabolism (disorder)

SCTID: 238017009, Primitive, Active

238017009|Disorder of lipid storage and metabolism (disorder)|

en Disorder of lipid storage and metabolism
en Disorder of lipid storage and metabolism (disorder)

Expression

238017009 |Disorder of lipid storage and metabolism (disorder)|
 <<< 48286001 |Disorder of lipoprotein and/or lipid metabolism (disorder)|

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356754011 - Disorder of lipid storage and metabolism (en) View
356754011	en	Synonym (core metadata concept)	Disorder of lipid storage and metabolism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626837016 - Disorder of lipid storage and metabolism (disorder) (en) View
626837016	en	Fully specified name (core metadata concept)	Disorder of lipid storage and metabolism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527054026) - 238017009 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527053021) - 238017009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53661023) - 238017009 -> 48286001 (116680003) View
116680003 \|Is a (attribute)\|	48286001 \|Disorder of lipoprotein and/or lipid metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
48286001 View
48286001	Disorder of lipoprotein and/or lipid metabolism (disorder)	Disorder of lipid and lipoprotein metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
722762005 View
722762005	Ganglioside gm3 synthase deficiency (disorder)	Gm3 synthase deficiency	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
86531000119105 View
86531000119105	Abnormal lipid deposits (disorder)	Abnormal lipid deposits	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
10741005 View
10741005	Lipid storage disease (disorder)	Lipidoses	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
11455007 View
11455007	Lipoidosis (disorder)	Lipoidosis	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
78960005 View
78960005	Pancreatic triacylglycerol lipase deficiency (disorder)	Isolated lipase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
79935000 View
79935000	Farber's lipogranulomatosis (disorder)	Farber disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
111303009 View
111303009	Sjögren-larsson syndrome (disorder)	Sjogren-larsson syndrome	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
238032002 View
238032002	Disorder of cholesterol catabolism (disorder)	Disorder of cholesterol catabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238036004 View
238036004	Disorder of cholesterol synthesis (disorder)	Disorder of cholesterol synthesis	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 (d7c23abd-35d8-5bd7-a26b-f5d2a59b4533) 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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