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Terminology chevron_right Concepts chevron_right 1187532002

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Component

1187532002

The component that hold information about this concept.

Fully Specified Name (FSN)

Peroxisome biogenesis disorder due to pex1 mutation (disorder)

Shortest Term

Pex1 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

Peroxisome biogenesis disorder due to pex1 mutation (disorder)

SCTID: 1187532002, Primitive, Active

1187532002|Peroxisome biogenesis disorder due to pex1 mutation (disorder)|

en Pex1 deficiency
en Peroxisome biogenesis disorder due to pex1 mutation
en Peroxisome biogenesis disorder due to pex1 mutation (disorder)

Expression

1187532002 |Peroxisome biogenesis disorder due to pex1 mutation (disorder)|
 <<< 742876007 |Peroxisome biogenesis disorder (disorder)| : 
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4674094014 - PEX1 deficiency (en) View
4674094014	en	Synonym (core metadata concept)	PEX1 deficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
4674534018 - Peroxisome biogenesis disorder due to PEX1 mutation (en) View
4674534018	en	Synonym (core metadata concept)	Peroxisome biogenesis disorder due to PEX1 mutation	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
4674533012 - Peroxisome biogenesis disorder due to PEX1 mutation (disorder) (en) View
4674533012	en	Fully specified name (core metadata concept)	Peroxisome biogenesis disorder due to PEX1 mutation (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (14976761021) - 1187532002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (14976768026) - 1187532002 -> 742876007 (116680003) View
116680003 \|Is a (attribute)\|	742876007 \|Peroxisome biogenesis disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
742876007 View
742876007	Peroxisome biogenesis disorder (disorder)	Peroxisome biogenesis disorder	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 (c42221ed-1eba-5be2-b669-28399b51bc1e) 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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