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Terminology chevron_right Concepts chevron_right 41483000

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Component

41483000

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

Shortest Term

Multiple malformation syndrome, small stature, without skeletal dysplasia

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, small stature, without skeletal dysplasia (disorder)

SCTID: 41483000, Primitive, Active

41483000|Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)|

en Multiple malformation syndrome, small stature, without skeletal dysplasia
en Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)

Expression

41483000 |Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
205808005 |Congenital malformation syndromes associated with short stature (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)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
69194019 - Multiple malformation syndrome, small stature, without skeletal dysplasia (en) View
69194019	en	Synonym (core metadata concept)	Multiple malformation syndrome, small stature, without skeletal dysplasia	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
778276018 - Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) (en) View
778276018	en	Fully specified name (core metadata concept)	Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
69195018 - Multiple malformation syndrome, small stature, without skeletal dysplasia, NOS (en) View
69195018	en	Synonym (core metadata concept)	Multiple malformation syndrome, small stature, without skeletal dysplasia, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13280413026) - 41483000 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5019850026) - 41483000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531348029) - 41483000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531349021) - 41483000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (775733025) - 41483000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2266864029) - 41483000 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995611028) - 41483000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2691911028) - 41483000 -> 205808005 (116680003) View
116680003 \|Is a (attribute)\|	205808005 \|Congenital malformation syndromes associated with short stature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (215709027) - 41483000 -> 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
205808005 View
205808005	Congenital malformation syndromes associated with short stature (disorder)	Congenital malformation syndromes associated with short stature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
702829000 View
702829000	Warsaw breakage syndrome (disorder)	Warsaw breakage syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
2593002 View
2593002	Dubowitz's syndrome (disorder)	Dubowitz syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
4434006 View
4434006	Bloom syndrome (disorder)	Bloom syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
7903009 View
7903009	Hallermann-streiff syndrome (disorder)	Hallerman-streiff syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
15069006 View
15069006	Russell-silver syndrome (disorder)	Silver syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
40354009 View
40354009	De lange syndrome (disorder)	Amsterdam dwarf	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
45582004 View
45582004	Rubinstein-taybi syndrome (disorder)	Rubinstein-taybi 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 (4c4da1ad-21e4-57ac-aff1-3711dfaabf59) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	IFA 702829000 \| Warsaw breakage syndrome (disorder) \|	IF A CHOOSE Q87.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (65ff8654-0b4a-55c6-a6e5-a7e9df7f38ba) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	OTHERWISE TRUE	ALWAYS Q87.1	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 (6c2cb3a7-4312-5171-9d24-0af494b31725) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	IFA 4434006 \| Bloom syndrome (disorder) \|	IF BLOOM SYNDROME CHOOSE Q82.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (78ad479e-7148-564d-87ad-928fb04c5df4) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	IFA 45582004 \| Rubinstein-Taybi syndrome (disorder) \|	IF RUBINSTEIN-TAYBI SYNDROME CHOOSE Q87.2 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (d60e50f1-250b-576c-9b3e-5c4c1e8c0f55) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1	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)\|

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (4c4da1ad-21e4-57ac-aff1-3711dfaabf59) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	IFA 702829000 \| Warsaw breakage syndrome (disorder) \|	IF A CHOOSE Q87.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (65ff8654-0b4a-55c6-a6e5-a7e9df7f38ba) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	OTHERWISE TRUE	ALWAYS Q87.1	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 (6c2cb3a7-4312-5171-9d24-0af494b31725) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	IFA 4434006 \| Bloom syndrome (disorder) \|	IF BLOOM SYNDROME CHOOSE Q82.8 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (78ad479e-7148-564d-87ad-928fb04c5df4) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	IFA 45582004 \| Rubinstein-Taybi syndrome (disorder) \|	IF RUBINSTEIN-TAYBI SYNDROME CHOOSE Q87.2 \| MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT	447561005 \|Snomed ct source code to target map code correlation not specified (foundation metadata concept)\|	447639009 \|Map of source concept is context dependent (foundation metadata concept)\|
ExtendedMap object (d60e50f1-250b-576c-9b3e-5c4c1e8c0f55) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.1	TRUE	ALWAYS Q87.1	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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