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Terminology chevron_right Concepts chevron_right 29076005

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Component

29076005

The component that hold information about this concept.

Fully Specified Name (FSN)

Meckel-gruber syndrome (disorder)

Shortest Term

Meckel-gruber 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

Meckel-gruber syndrome (disorder)

SCTID: 29076005, Primitive, Active

29076005|Meckel-gruber syndrome (disorder)|

en Dysencephalia splanchnocystica
en Meckel-gruber syndrome (disorder)
en Meckel-gruber syndrome

Expression

29076005 |Meckel-gruber syndrome (disorder)|
 <<< 64162006 |Multiple malformation syndrome with unusual brain and/or neuromuscular findings (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
48667017 - Dysencephalia splanchnocystica (en) View
48667017	en	Synonym (core metadata concept)	Dysencephalia splanchnocystica	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
759929010 - Meckel-Gruber syndrome (disorder) (en) View
759929010	en	Fully specified name (core metadata concept)	Meckel-Gruber syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
48666014 - Meckel-Gruber syndrome (en) View
48666014	en	Synonym (core metadata concept)	Meckel-Gruber syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5019693028) - 29076005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527057027) - 29076005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527058021) - 29076005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (744871029) - 29076005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2265732022) - 29076005 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995214028) - 29076005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (744872020) - 29076005 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (195308029) - 29076005 -> 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
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 (88db08d6-c2a8-5a42-bc45-dacecd2ff448) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q61.9	TRUE	ALWAYS Q61.9	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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