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Terminology chevron_right Concepts chevron_right 69093006

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Component

69093006

The component that hold information about this concept.

Fully Specified Name (FSN)

Rothmund-thomson syndrome (disorder)

Shortest Term

Poikiloderma congenitale

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

Rothmund-thomson syndrome (disorder)

SCTID: 69093006, Primitive, Active

69093006|Rothmund-thomson syndrome (disorder)|

en Poikiloderma congenitale
en Poikiloderma congenitale syndrome
en Rothmund-thomson syndrome (disorder)
en Rothmund-thomson syndrome

Expression

69093006 |Rothmund-thomson syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
12674005 |Multiple malformation syndrome with senile-like appearance (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| + 
402685001 |Poikiloderma (disorder)| + 
239001006 |Genodermatosis (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 70114006 |Poikiloderma (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)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
1233118010 - Poikiloderma congenitale (en) View
1233118010	en	Synonym (core metadata concept)	Poikiloderma congenitale	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
114762015 - Poikiloderma congenitale syndrome (en) View
114762015	en	Synonym (core metadata concept)	Poikiloderma congenitale syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
809000019 - Rothmund-Thomson syndrome (disorder) (en) View
809000019	en	Fully specified name (core metadata concept)	Rothmund-Thomson syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
114761010 - Rothmund-Thomson syndrome (en) View
114761010	en	Synonym (core metadata concept)	Rothmund-Thomson syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13068889021) - 69093006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2230528024) - 69093006 -> 400190005 (116680003) View
116680003 \|Is a (attribute)\|	400190005 \|Atrophic condition of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4995938021) - 69093006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020003027) - 69093006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031967026) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9657437026) - 69093006 -> 402685001 (116680003) View
116680003 \|Is a (attribute)\|	402685001 \|Poikiloderma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521593028) - 69093006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10521594023) - 69093006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (846462029) - 69093006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2269316027) - 69093006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2600200021) - 69093006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092307023) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4799927025) - 69093006 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4799928024) - 69093006 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2977340024) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2977341023) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3092306025) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2912401020) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2912402029) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2819471021) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2819472025) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672316023) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2672317025) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (846463023) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2514041024) - 69093006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (260494025) - 69093006 -> 95324001 (116680003) View
116680003 \|Is a (attribute)\|	95324001 \|Skin lesion (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1680598020) - 69093006 -> 362975008 (116680003) View
116680003 \|Is a (attribute)\|	362975008 \|Degenerative disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1775730023) - 69093006 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (260492026) - 69093006 -> 239001006 (116680003) View
116680003 \|Is a (attribute)\|	239001006 \|Genodermatosis (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (260493020) - 69093006 -> 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 (846464028) - 69093006 -> 70114006 (116676008) View
116676008 \|Associated morphology (attribute)\|	70114006 \|Poikiloderma (morphologic abnormality)\|	1	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
402685001 View
402685001	Poikiloderma (disorder)	Poikiloderma	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
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
239001006 View
239001006	Genodermatosis (disorder)	Genodermatosis	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1003922004 View
1003922004	Rothmund thomson syndrome type 1 (disorder)	Rothmund thomson syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1003923009 View
1003923009	Rothmund thomson syndrome type 2 (disorder)	Rothmund thomson syndrome type 2	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 (77a54cdb-3764-5253-b3d3-9edb061dad25) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.8	TRUE	ALWAYS Q82.8	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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