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Terminology chevron_right Concepts chevron_right 205824006

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Component

205824006

The component that hold information about this concept.

Fully Specified Name (FSN)

Noonan's syndrome (disorder)

Shortest Term

Noonan 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

Noonan's syndrome (disorder)

SCTID: 205824006, Primitive, Active

205824006|Noonan's syndrome (disorder)|

en Noonan-ehmke syndrome
en Noonan syndrome
en Turner-like syndrome
en Noonan's syndrome (disorder)
en Noonan's syndrome

Expression

205824006 |Noonan's syndrome (disorder)|
 <<< 77701002 |Multiple malformation syndrome, moderate short stature, facial (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
11164009 |Autosomal dominant 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
2475674013 - Noonan-Ehmke syndrome (en) View
2475674013	en	Synonym (core metadata concept)	Noonan-Ehmke syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2475676010 - Noonan syndrome (en) View
2475676010	en	Synonym (core metadata concept)	Noonan syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
2475675014 - Turner-like syndrome (en) View
2475675014	en	Synonym (core metadata concept)	Turner-like syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
591246012 - Noonan's syndrome (disorder) (en) View
591246012	en	Fully specified name (core metadata concept)	Noonan's syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
315625018 - Noonan's syndrome (en) View
315625018	en	Synonym (core metadata concept)	Noonan's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069010022) - 205824006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020411026) - 205824006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10527029023) - 205824006 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10527030029) - 205824006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2615834021) - 205824006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2615835022) - 205824006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4996859023) - 205824006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799047020) - 205824006 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (331111026) - 205824006 -> 928000 (116680003) View
116680003 \|Is a (attribute)\|	928000 \|Disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (971922026) - 205824006 -> 26107004 (363698007) View
363698007 \|Finding site (attribute)\|	26107004 \|Structure of musculoskeletal system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1694596026) - 205824006 -> 281867008 (116680003) View
116680003 \|Is a (attribute)\|	281867008 \|Multisystem disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2556686023) - 205824006 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2556687025) - 205824006 -> 77701002 (116680003) View
116680003 \|Is a (attribute)\|	77701002 \|Multiple malformation syndrome, moderate short stature, facial (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (331112022) - 205824006 -> 312571009 (116680003) View
116680003 \|Is a (attribute)\|	312571009 \|Multisystem disorder m-n (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

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
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept 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
77701002 View
77701002	Multiple malformation syndrome, moderate short stature, facial (disorder)	Multiple malformation syndrome, moderate short stature, facial	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 (9732a48c-e76d-57d8-9a82-dafa333d4460) 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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