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Terminology chevron_right Concepts chevron_right 73284007

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Component

73284007

The component that hold information about this concept.

Fully Specified Name (FSN)

Marshall-smith syndrome (disorder)

Shortest Term

Marshall-smith 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

Marshall-smith syndrome (disorder)

SCTID: 73284007, Primitive, Active

73284007|Marshall-smith syndrome (disorder)|

en Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome
en Marshall-smith syndrome (disorder)
en Marshall-smith syndrome

Expression

73284007 |Marshall-smith syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
105986008 |Congenital skeletal dysplasia (disorder)| + 
48637007 |Multiple malformation syndrome with early overgrowth (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 113192009 |Skeletal system structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
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
3799840019 - Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome (en) View
3799840019	en	Synonym (core metadata concept)	Accelerated skeletal maturation, facial dysmorphism, failure to thrive syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
813655015 - Marshall-Smith syndrome (disorder) (en) View
813655015	en	Fully specified name (core metadata concept)	Marshall-Smith syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
121704017 - Marshall-Smith syndrome (en) View
121704017	en	Synonym (core metadata concept)	Marshall-Smith syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068895022) - 73284007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (856617028) - 73284007 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2550576023) - 73284007 -> 928000 (116680003) View
116680003 \|Is a (attribute)\|	928000 \|Disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528775024) - 73284007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12090576027) - 73284007 -> 113192009 (363698007) View
363698007 \|Finding site (attribute)\|	113192009 \|Skeletal system structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090577020) - 73284007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090578026) - 73284007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090579023) - 73284007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090580021) - 73284007 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090581020) - 73284007 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090582029) - 73284007 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090583023) - 73284007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090584028) - 73284007 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12090585027) - 73284007 -> 105986008 (116680003) View
116680003 \|Is a (attribute)\|	105986008 \|Congenital skeletal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020538020) - 73284007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528774023) - 73284007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (856616021) - 73284007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2269671021) - 73284007 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997165025) - 73284007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2230927023) - 73284007 -> 73573004 (116680003) View
116680003 \|Is a (attribute)\|	73573004 \|Congenital anomaly of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1681551020) - 73284007 -> 928000 (116680003) View
116680003 \|Is a (attribute)\|	928000 \|Disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (267253023) - 73284007 -> 312571009 (116680003) View
116680003 \|Is a (attribute)\|	312571009 \|Multisystem disorder m-n (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (267254028) - 73284007 -> 73573004 (116680003) View
116680003 \|Is a (attribute)\|	73573004 \|Congenital anomaly of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (267255027) - 73284007 -> 48637007 (116680003) View
116680003 \|Is a (attribute)\|	48637007 \|Multiple malformation syndrome with early overgrowth (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
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
48637007 View
48637007	Multiple malformation syndrome with early overgrowth (disorder)	Multiple malformation syndrome with early overgrowth	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
105986008 View
105986008	Congenital skeletal dysplasia (disorder)	Osteodysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions 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 (9349665f-93af-58fb-9217-86a82de2c48d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.3	TRUE	ALWAYS Q87.3	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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