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Terminology chevron_right Concepts chevron_right 238072006

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Component

238072006

The component that hold information about this concept.

Fully Specified Name (FSN)

Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)

Shortest Term

Isolated dihydroxyacetone phosphate acyltransferase deficiency

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

Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)

SCTID: 238072006, Primitive, Active

238072006|Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)|

en Isolated dihydroxyacetone phosphate acyltransferase deficiency
en Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)
en Isolated dhap-at - dihydroxyacetone phosphate acyltransferase deficiency

Expression

238072006 |Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)|
 <<< 238066006 |Loss of single peroxisomal function (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
356860019 - Isolated dihydroxyacetone phosphate acyltransferase deficiency (en) View
356860019	en	Synonym (core metadata concept)	Isolated dihydroxyacetone phosphate acyltransferase deficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626904017 - Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder) (en) View
626904017	en	Fully specified name (core metadata concept)	Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
356859012 - Isolated DHAP-AT - dihydroxyacetone phosphate acyltransferase deficiency (en) View
356859012	en	Synonym (core metadata concept)	Isolated DHAP-AT - dihydroxyacetone phosphate acyltransferase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527179026) - 238072006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527178023) - 238072006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53731022) - 238072006 -> 238066006 (116680003) View
116680003 \|Is a (attribute)\|	238066006 \|Loss of single peroxisomal function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
238066006 View
238066006	Loss of single peroxisomal function (disorder)	Loss of single peroxisomal function	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 (11d8874a-4487-5f40-8ec1-18bb80d0a9d5) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E74.4	TRUE	ALWAYS E74.4	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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