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Terminology chevron_right Concepts chevron_right 238069004

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Component

238069004

The component that hold information about this concept.

Fully Specified Name (FSN)

Acyl-coa oxidase deficiency (disorder)

Shortest Term

Pseudoadrenoleukodystrophy

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

Acyl-coa oxidase deficiency (disorder)

SCTID: 238069004, Primitive, Active

238069004|Acyl-coa oxidase deficiency (disorder)|

en Peroxisomal acyl-coa oxidase deficiency
en Pseudoadrenoleukodystrophy
en Straight-chain acyl-coa oxidase deficiency
en Pseudo-neonatal adrenoleucodystrophy
en Acyl-coenzyme a oxidase deficiency
en Acyl-coenzyme a oxidase deficiency (disorder)
en Acyl-coa oxidase deficiency

Expression

238069004 |Acyl-coa oxidase deficiency (disorder)|
 <<< 128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
362975008 |Degenerative disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
238066006 |Loss of single peroxisomal function (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 107669003 |Degenerative abnormality (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3425921019 - Peroxisomal acyl-CoA oxidase deficiency (en) View
3425921019	en	Synonym (core metadata concept)	Peroxisomal acyl-CoA oxidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3521402019 - Pseudoadrenoleukodystrophy (en) View
3521402019	en	Synonym (core metadata concept)	Pseudoadrenoleukodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3425922014 - Straight-chain acyl-CoA oxidase deficiency (en) View
3425922014	en	Synonym (core metadata concept)	Straight-chain acyl-CoA oxidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
356854019 - Pseudo-neonatal adrenoleucodystrophy (en) View
356854019	en	Synonym (core metadata concept)	Pseudo-neonatal adrenoleucodystrophy	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
626901013 - Acyl-CoA oxidase deficiency (disorder) (en) View
626901013	en	Fully specified name (core metadata concept)	Acyl-CoA oxidase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	False
2971496010 - Acyl-coenzyme A oxidase deficiency (en) View
2971496010	en	Synonym (core metadata concept)	Acyl-coenzyme A oxidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
2971297015 - Acyl-coenzyme A oxidase deficiency (disorder) (en) View
2971297015	en	Fully specified name (core metadata concept)	Acyl-coenzyme A oxidase deficiency (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
356853013 - Acyl-CoA oxidase deficiency (en) View
356853013	en	Synonym (core metadata concept)	Acyl-CoA oxidase deficiency	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14023492024) - 238069004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15120461028) - 238069004 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (53728021) - 238069004 -> 65389002 (116680003) View
116680003 \|Is a (attribute)\|	65389002 \|Adrenoleukodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112243027) - 238069004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7112244022) - 238069004 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (14023490027) - 238069004 -> 238066006 (116680003) View
116680003 \|Is a (attribute)\|	238066006 \|Loss of single peroxisomal function (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023491028) - 238069004 -> 362975008 (116680003) View
116680003 \|Is a (attribute)\|	362975008 \|Degenerative disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023493025) - 238069004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023494020) - 238069004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023495021) - 238069004 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14023496022) - 238069004 -> 107669003 (116676008) View
116676008 \|Associated morphology (attribute)\|	107669003 \|Degenerative abnormality (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (527171028) - 238069004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527172024) - 238069004 -> 68594002 (363698007) View
363698007 \|Finding site (attribute)\|	68594002 \|Adrenal cortex structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (527173025) - 238069004 -> 127944005 (363698007) View
363698007 \|Finding site (attribute)\|	127944005 \|Entire endocrine gonad (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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
362975008 View
362975008	Degenerative disorder (disorder)	Degenerative disorder	900000000000073002 \|Sufficiently defined by necessary conditions 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 (b8ea34b2-bce8-5b58-bcf3-c27d49b14f07) 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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