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Terminology chevron_right Concepts chevron_right 88469006

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Component

88469006

The component that hold information about this concept.

Fully Specified Name (FSN)

Zellweger syndrome (disorder)

Shortest Term

Zellweger syndrome

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

Zellweger syndrome (disorder)

SCTID: 88469006, Primitive, Active

88469006|Zellweger syndrome (disorder)|

en Cerebrohepatorenal syndrome
en Hyperpipecolic acidaemia
en Hyperpipecolic acidemia
en Zellweger's syndrome
en Zellweger syndrome (disorder)
en Zellweger syndrome

Expression

88469006 |Zellweger syndrome (disorder)|
 <<< 64162006 |Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)| + 
742876007 |Peroxisome biogenesis disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
146683010 - Cerebrohepatorenal syndrome (en) View
146683010	en	Synonym (core metadata concept)	Cerebrohepatorenal syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1217059010 - Hyperpipecolic acidaemia (en) View
1217059010	en	Synonym (core metadata concept)	Hyperpipecolic acidaemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1218547015 - Hyperpipecolic acidemia (en) View
1218547015	en	Synonym (core metadata concept)	Hyperpipecolic acidemia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1235347013 - Zellweger's syndrome (en) View
1235347013	en	Synonym (core metadata concept)	Zellweger's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
831158015 - Zellweger syndrome (disorder) (en) View
831158015	en	Fully specified name (core metadata concept)	Zellweger syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
146682017 - Zellweger syndrome (en) View
146682017	en	Synonym (core metadata concept)	Zellweger syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068909022) - 88469006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020144029) - 88469006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10534040027) - 88469006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10534041028) - 88469006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (292569027) - 88469006 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (292571027) - 88469006 -> 34420000 (116680003) View
116680003 \|Is a (attribute)\|	34420000 \|Storage disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7389678026) - 88469006 -> 742876007 (116680003) View
116680003 \|Is a (attribute)\|	742876007 \|Peroxisome biogenesis disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (896171026) - 88469006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2270966023) - 88469006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996239028) - 88469006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (292570026) - 88469006 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (896172022) - 88469006 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (292567025) - 88469006 -> 312576004 (116680003) View
116680003 \|Is a (attribute)\|	312576004 \|Multisystem disorder y-z (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (292568024) - 88469006 -> 64162006 (116680003) View
116680003 \|Is a (attribute)\|	64162006 \|Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
742876007 View
742876007	Peroxisome biogenesis disorder (disorder)	Peroxisome biogenesis disorder	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
64162006 View
64162006	Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	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 (2fa3c418-faaa-5b5b-b096-ad7e6f808c04) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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)\|
ExtendedMap object (f78bc5fe-e5b4-5351-89fe-d11e453030a0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	q87.8	TRUE	ALWAYS q87.8	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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