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Terminology chevron_right Concepts chevron_right 238066006

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Component

238066006

The component that hold information about this concept.

Fully Specified Name (FSN)

Loss of single peroxisomal function (disorder)

Shortest Term

Loss of single peroxisomal function

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

Loss of single peroxisomal function (disorder)

SCTID: 238066006, Primitive, Active

238066006|Loss of single peroxisomal function (disorder)|

en Loss of single peroxisomal function
en Loss of single peroxisomal function (disorder)

Expression

238066006 |Loss of single peroxisomal function (disorder)|
 <<< 238059005 |Disorder of 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
356848015 - Loss of single peroxisomal function (en) View
356848015	en	Synonym (core metadata concept)	Loss of single peroxisomal function	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626897019 - Loss of single peroxisomal function (disorder) (en) View
626897019	en	Fully specified name (core metadata concept)	Loss of single peroxisomal function (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (527166024) - 238066006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527165023) - 238066006 -> 91689009 (363698007) View
363698007 \|Finding site (attribute)\|	91689009 \|Body system structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53724023) - 238066006 -> 238059005 (116680003) View
116680003 \|Is a (attribute)\|	238059005 \|Disorder of peroxisomal function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
238059005 View
238059005	Disorder of peroxisomal function (disorder)	Disorder of peroxisomal function	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1237619001 View
1237619001	Fatty acyl-coenzyme a reductase 1 deficiency (disorder)	Far1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
773415005 View
773415005	Contiguous abcd1 dxs1357e deletion syndrome (disorder)	Hội chứng xóa abcd1 dxs1357e liền kề	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
733452000 View
733452000	Leukoencephalopathy, dystonia, motor neuropathy syndrome (disorder)	Leucoencephalopathy, dystonia, motor neuropathy syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65389002 View
65389002	Adrenoleukodystrophy (disorder)	Ald	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65520001 View
65520001	Primary hyperoxaluria, type i (disorder)	Ph i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238067002 View
238067002	Peroxisomal thiolase deficiency (disorder)	Pseudo-zellweger syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238068007 View
238068007	Bifunctional peroxisomal enzyme deficiency (disorder)	Bifunctional peroxisomal enzyme deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238069004 View
238069004	Acyl-coa oxidase deficiency (disorder)	Pseudoadrenoleukodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238070003 View
238070003	Glutaryl-coa oxidase deficiency (disorder)	Glutaric acidemia type 3	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238071004 View
238071004	Dihydroxycholestanoic acidemia and trihydroxycholestanoic acidemia (disorder)	Trihydroxycholestanoyl-coa oxidase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238072006 View
238072006	Isolated dihydroxyacetone phosphate acyltransferase deficiency (disorder)	Isolated dihydroxyacetone phosphate acyltransferase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238073001 View
238073001	Isolated alkyldihydroxyacetone phosphate synthase deficiency (disorder)	Isolated alkyldihydroxyacetone phosphate synthase deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
267454002 View
267454002	Acatalasemia (disorder)	Acatalasia	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 (8f8127ae-f895-5332-9556-887c45945097) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E71.3	TRUE	ALWAYS E71.3	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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