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Terminology chevron_right Concepts chevron_right 64162006

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Component

64162006

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)

Shortest Term

Multiple malformation syndrome with unusual brain and/or neuromuscular findings

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

Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)

SCTID: 64162006, Primitive, Active

64162006|Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)|

en Multiple malformation syndrome with unusual brain and/or neuromuscular findings
en Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)

Expression

64162006 |Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (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
106661014 - Multiple malformation syndrome with unusual brain and/or neuromuscular findings (en) View
106661014	en	Synonym (core metadata concept)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
803525011 - Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder) (en) View
803525011	en	Fully specified name (core metadata concept)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
106662019 - Multiple malformation syndrome with unusual brain and/or neuromuscular findings, NOS (en) View
106662019	en	Synonym (core metadata concept)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (5019993025) - 64162006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10514059024) - 64162006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10514060025) - 64162006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (834043022) - 64162006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2268843021) - 64162006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995906027) - 64162006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (834044027) - 64162006 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2549546029) - 64162006 -> 57148006 (116680003) View
116680003 \|Is a (attribute)\|	57148006 \|Congenital anomaly of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (252491027) - 64162006 -> 81308009 (116680003) View
116680003 \|Is a (attribute)\|	81308009 \|Disorder of brain (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (252493029) - 64162006 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (252492023) - 64162006 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
770680004 View
770680004	Prader-willi-like syndrome (disorder)	Prader-willi-like syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
718880003 View
718880003	Zellweger-like syndrome without peroxisomal anomaly (disorder)	Ahn lerman sagie syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
401138005 View
401138005	Pena-shokeir syndrome type i (disorder)	Pena-shokeir phenotype	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
18899000 View
18899000	Schinzel-giedion syndrome (disorder)	Schinzel-giedon syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
29076005 View
29076005	Meckel-gruber syndrome (disorder)	Meckel-gruber syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
41283003 View
41283003	Cerebro-oculo-facio-skeletal syndrome (disorder)	Cofs syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
56604005 View
56604005	Cohen syndrome (disorder)	Cohen syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
56677004 View
56677004	Pallister-hall syndrome (disorder)	Pallister-hall syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
68504005 View
68504005	Ataxia-telangiectasia syndrome (disorder)	Louis-bar syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
71779008 View
71779008	X-linked hydrocephalus syndrome (disorder)	Bickers-adams syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
79385002 View
79385002	Lowe syndrome (disorder)	Lowe disease	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
80734006 View
80734006	Marinesco-sjögren syndrome (disorder)	Marinesco-sjogren 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
111303009 View
111303009	Sjögren-larsson syndrome (disorder)	Sjogren-larsson syndrome	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 (c7c80a5b-9266-5e6b-bf8a-5d9abe8233db) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q89.7	TRUE	ALWAYS Q89.7	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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