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Terminology chevron_right Concepts chevron_right 69408002

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Component

69408002

The component that hold information about this concept.

Fully Specified Name (FSN)

Gorlin syndrome (disorder)

Shortest Term

Gorlin syndrome

Definition Status

900000000000073002 |Sufficiently defined by necessary conditions definition status (core metadata concept)|

Specifies if the concept version is primitive or defined. Set to a descendant of 900000000000444006

Summary

Gorlin syndrome (disorder)

SCTID: 69408002, Defined, Active

69408002|Gorlin syndrome (disorder)|

en Basal cell carcinoma syndrome
en Basal cell naevus syndrome
en Basal cell nevus syndrome
en Naevoid basal cell carcinoma syndrome
en Nevoid basal cell carcinoma syndrome
en Gorlin's syndrome
en Bcns - basal cell naevus syndrome
en Bcns - basal cell nevus syndrome
en Gorlin syndrome (disorder)
en Nbccs - naevoid basal cell carcinoma syndrome
en Nbccs - nevoid basal cell carcinoma syndrome
en Gorlin-goltz syndrome
en Gorlin syndrome

Expression

69408002 |Gorlin syndrome (disorder)|
 === 363185004 |Hereditary disorder of the integument (disorder)| + 
254701007 |Basal cell carcinoma of skin (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
699346009 |Hereditary cancer-predisposing syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 399569002 |Basal cell carcinoma in basal cell nevus syndrome (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
115301015 - Basal cell carcinoma syndrome (en) View
115301015	en	Synonym (core metadata concept)	Basal cell carcinoma syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501273014 - Basal cell naevus syndrome (en) View
501273014	en	Synonym (core metadata concept)	Basal cell naevus syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
115303017 - Basal cell nevus syndrome (en) View
115303017	en	Synonym (core metadata concept)	Basal cell nevus syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
501272016 - Naevoid basal cell carcinoma syndrome (en) View
501272016	en	Synonym (core metadata concept)	Naevoid basal cell carcinoma syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
115300019 - Nevoid basal cell carcinoma syndrome (en) View
115300019	en	Synonym (core metadata concept)	Nevoid basal cell carcinoma syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1233157019 - Gorlin's syndrome (en) View
1233157019	en	Synonym (core metadata concept)	Gorlin's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1216871010 - BCNS - Basal cell naevus syndrome (en) View
1216871010	en	Synonym (core metadata concept)	BCNS - Basal cell naevus syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1218359017 - BCNS - Basal cell nevus syndrome (en) View
1218359017	en	Synonym (core metadata concept)	BCNS - Basal cell nevus syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
809350016 - Gorlin syndrome (disorder) (en) View
809350016	en	Fully specified name (core metadata concept)	Gorlin syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
1216872015 - NBCCS - Naevoid basal cell carcinoma syndrome (en) View
1216872015	en	Synonym (core metadata concept)	NBCCS - Naevoid basal cell carcinoma syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
1218358013 - NBCCS - Nevoid basal cell carcinoma syndrome (en) View
1218358013	en	Synonym (core metadata concept)	NBCCS - Nevoid basal cell carcinoma syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
115302010 - Gorlin-Goltz syndrome (en) View
115302010	en	Synonym (core metadata concept)	Gorlin-Goltz syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
115299010 - Gorlin syndrome (en) View
115299010	en	Synonym (core metadata concept)	Gorlin syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2771744023) - 69408002 -> 94047004 (116680003) View
116680003 \|Is a (attribute)\|	94047004 \|Primary malignant neoplasm of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2230551024) - 69408002 -> 239003009 (116680003) View
116680003 \|Is a (attribute)\|	239003009 \|Familial multiple tumor syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11491798028) - 69408002 -> 699346009 (116680003) View
116680003 \|Is a (attribute)\|	699346009 \|Hereditary cancer-predisposing syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2039907025) - 69408002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2269335027) - 69408002 -> 399569002 (116676008) View
116676008 \|Associated morphology (attribute)\|	399569002 \|Basal cell carcinoma in basal cell nevus syndrome (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3379556025) - 69408002 -> 399569002 (116676008) View
116676008 \|Associated morphology (attribute)\|	399569002 \|Basal cell carcinoma in basal cell nevus syndrome (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3445396027) - 69408002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2550113026) - 69408002 -> 372010005 (116680003) View
116680003 \|Is a (attribute)\|	372010005 \|Primary malignant neoplasm of soft tissues (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2230552028) - 69408002 -> 372087000 (116680003) View
116680003 \|Is a (attribute)\|	372087000 \|Primary malignant neoplasm (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2269333023) - 69408002 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2269334028) - 69408002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (847038024) - 69408002 -> 1338007 (116676008) View
116676008 \|Associated morphology (attribute)\|	1338007 \|Basal cell carcinoma (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (847040025) - 69408002 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2039906023) - 69408002 -> 86049000 (116676008) View
116676008 \|Associated morphology (attribute)\|	86049000 \|Malignant neoplasm, primary (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (847036023) - 69408002 -> 367640003 (308489006) View
308489006 \|Pathological process (qualifier value)\|	367640003 \|Neoplastic process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (847037025) - 69408002 -> 367636007 (308489006) View
308489006 \|Pathological process (qualifier value)\|	367636007 \|Malignant neoplastic process (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (847039027) - 69408002 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (260949025) - 69408002 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (260950025) - 69408002 -> 254701007 (116680003) View
116680003 \|Is a (attribute)\|	254701007 \|Basal cell carcinoma of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (260951026) - 69408002 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
699346009 View
699346009	Hereditary cancer-predisposing syndrome (disorder)	Hereditary neoplastic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
254701007 View
254701007	Basal cell carcinoma of skin (disorder)	Basalioma	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
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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (1e3ee197-d50b-5804-b227-07b37a9afd64) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.0	TRUE	ALWAYS Q87.0	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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