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Terminology chevron_right Concepts chevron_right 51626007

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Component

51626007

The component that hold information about this concept.

Fully Specified Name (FSN)

Werner syndrome (disorder)

Shortest Term

Pangeria

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

Werner syndrome (disorder)

SCTID: 51626007, Primitive, Active

51626007|Werner syndrome (disorder)|

en Adult premature ageing syndrome
en Adult premature aging syndrome
en Adult progeria
en Pangeria
en Progeria of the adult
en Werner syndrome (disorder)
en Werner syndrome

Expression

51626007 |Werner syndrome (disorder)|
 <<< 199879009 |Congenital anomaly of skin (disorder)| + 
399959003 |Premature aging syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
237834000 |Disorder of stature (disorder)| + 
12674005 |Multiple malformation syndrome with senile-like appearance (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
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
1783826013 - Adult premature ageing syndrome (en) View
1783826013	en	Synonym (core metadata concept)	Adult premature ageing syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1784214017 - Adult premature aging syndrome (en) View
1784214017	en	Synonym (core metadata concept)	Adult premature aging syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1231008011 - Adult progeria (en) View
1231008011	en	Synonym (core metadata concept)	Adult progeria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1231007018 - Pangeria (en) View
1231007018	en	Synonym (core metadata concept)	Pangeria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
85981018 - Progeria of the adult (en) View
85981018	en	Synonym (core metadata concept)	Progeria of the adult	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
789546011 - Werner syndrome (disorder) (en) View
789546011	en	Fully specified name (core metadata concept)	Werner syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
85980017 - Werner syndrome (en) View
85980017	en	Synonym (core metadata concept)	Werner syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068936024) - 51626007 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280400021) - 51626007 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (800651025) - 51626007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2228842028) - 51626007 -> 199879009 (116680003) View
116680003 \|Is a (attribute)\|	199879009 \|Congenital anomaly of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086282023) - 51626007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086283029) - 51626007 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5020617024) - 51626007 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10531383025) - 51626007 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531384020) - 51626007 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (800652021) - 51626007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267789020) - 51626007 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997326021) - 51626007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799113020) - 51626007 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (232050029) - 51626007 -> 190590004 (116680003) View
116680003 \|Is a (attribute)\|	190590004 \|Progeria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2228843022) - 51626007 -> 399959003 (116680003) View
116680003 \|Is a (attribute)\|	399959003 \|Premature aging syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (232051025) - 51626007 -> 12674005 (116680003) View
116680003 \|Is a (attribute)\|	12674005 \|Multiple malformation syndrome with senile-like appearance (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (232052021) - 51626007 -> 237834000 (116680003) View
116680003 \|Is a (attribute)\|	237834000 \|Disorder of stature (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
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
399959003 View
399959003	Premature aging syndrome (disorder)	Premature aging syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
199879009 View
199879009	Congenital anomaly of skin (disorder)	Genodermatosis, nos	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
12674005 View
12674005	Multiple malformation syndrome with senile-like appearance (disorder)	Multiple malformation syndrome with senile-like appearance	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237834000 View
237834000	Disorder of stature (disorder)	Disorder of stature	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 (667c59d1-e072-5b91-bbe3-012a7785beab) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E34.8	TRUE	ALWAYS E34.8	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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