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Terminology chevron_right Concepts chevron_right 742876007

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Component

742876007

The component that hold information about this concept.

Fully Specified Name (FSN)

Peroxisome biogenesis disorder (disorder)

Shortest Term

Peroxisome biogenesis disorder

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

Peroxisome biogenesis disorder (disorder)

SCTID: 742876007, Primitive, Active

742876007|Peroxisome biogenesis disorder (disorder)|

en Pbd-zss - peroxisome biogenesis disorder zellweger syndrome spectrum
en Peroxisome biogenesis disorder
en Peroxisome biogenesis disorder (disorder)
en Peroxisome biogenesis disorder spectrum

Expression

742876007 |Peroxisome biogenesis disorder (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (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
3550355015 - PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum (en) View
3550355015	en	Synonym (core metadata concept)	PBD-ZSS - Peroxisome biogenesis disorder Zellweger syndrome spectrum	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3550353010 - Peroxisome biogenesis disorder (en) View
3550353010	en	Synonym (core metadata concept)	Peroxisome biogenesis disorder	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3550354016 - Peroxisome biogenesis disorder (disorder) (en) View
3550354016	en	Fully specified name (core metadata concept)	Peroxisome biogenesis disorder (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3550352017 - Peroxisome biogenesis disorder spectrum (en) View
3550352017	en	Synonym (core metadata concept)	Peroxisome biogenesis disorder spectrum	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7390731026) - 742876007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7390729024) - 742876007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7390730025) - 742876007 -> 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
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
1187522009 View
1187522009	Peroxisome biogenesis disorder due to pex26 mutation (disorder)	Pex26 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187523004 View
1187523004	Peroxisome biogenesis disorder due to pex3 mutation (disorder)	Pex3 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187524005 View
1187524005	Peroxisome biogenesis disorder due to pex19 mutation (disorder)	Pex19 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187525006 View
1187525006	Peroxisome biogenesis disorder due to pex2 mutation (disorder)	Pex2 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187526007 View
1187526007	Peroxisome biogenesis disorder due to pex16 mutation (disorder)	Pex16 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187527003 View
1187527003	Peroxisome biogenesis disorder due to pex13 mutation (disorder)	Pex13 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187528008 View
1187528008	Peroxisome biogenesis disorder due to pex14 mutation (disorder)	Pex14 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187529000 View
1187529000	Peroxisome biogenesis disorder due to pex10 mutation (disorder)	Pex10 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187530005 View
1187530005	Peroxisome biogenesis disorder due to pex12 mutation (disorder)	Pex12 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187532002 View
1187532002	Peroxisome biogenesis disorder due to pex1 mutation (disorder)	Pex1 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187548001 View
1187548001	Peroxisome biogenesis disorder due to pex5 mutation (disorder)	Pex5 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1187550009 View
1187550009	Peroxisome biogenesis disorder due to pex6 mutation (disorder)	Pex6 deficiency	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721085000 View
721085000	Deafness, enamel hypoplasia, nail defect syndrome (disorder)	Heimler syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
88469006 View
88469006	Zellweger syndrome (disorder)	Zellweger syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238061001 View
238061001	Neonatal adrenoleucodystrophy (disorder)	Neonatal adrenoleucodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
238062008 View
238062008	Infantile refsum's disease (disorder)	Infantile refsum disease	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 (217515ca-143b-56de-b1f5-9e3a7e6c3edf) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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