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Terminology chevron_right Concepts chevron_right 703541007

Production

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Component

703541007

The component that hold information about this concept.

Fully Specified Name (FSN)

Neurofibromatosis type 1-like syndrome (disorder)

Shortest Term

Legius 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

Neurofibromatosis type 1-like syndrome (disorder)

SCTID: 703541007, Primitive, Active

703541007|Neurofibromatosis type 1-like syndrome (disorder)|

en Neurofibromatosis type 1-like syndrome
en Neurofibromatosis type 1-like syndrome (disorder)
en Legius syndrome
en Nfls - neurofibromatosis type 1-like syndrome

Expression

703541007 |Neurofibromatosis type 1-like syndrome (disorder)|
 <<< 111474003 |Disorder involving the integument of fetus or newborn (disorder)| + 
201281002 |Café au lait spot (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
49765009 |Hyperpigmentation of skin (disorder)| + 
66091009 |Congenital disease (disorder)| + 
11164009 |Autosomal dominant hereditary disorder (disorder)| + 
724839001 |Genetic disorder of skin pigmentation (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4830009 |Hyperpigmentation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 39937001 |Skin structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3009772019 - Neurofibromatosis type 1-like syndrome (en) View
3009772019	en	Synonym (core metadata concept)	Neurofibromatosis type 1-like syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3009354011 - Neurofibromatosis type 1-like syndrome (disorder) (en) View
3009354011	en	Fully specified name (core metadata concept)	Neurofibromatosis type 1-like syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3008946013 - Legius syndrome (en) View
3008946013	en	Synonym (core metadata concept)	Legius syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3009678012 - NFLS - neurofibromatosis type 1-like syndrome (en) View
3009678012	en	Synonym (core metadata concept)	NFLS - neurofibromatosis type 1-like syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15880883020) - 703541007 -> 111474003 (116680003) View
116680003 \|Is a (attribute)\|	111474003 \|Disorder involving the integument of fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046533028) - 703541007 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046534023) - 703541007 -> 79644001 (116676008) View
116676008 \|Associated morphology (attribute)\|	79644001 \|Pigment alteration (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13647822028) - 703541007 -> 49765009 (116680003) View
116680003 \|Is a (attribute)\|	49765009 \|Hyperpigmentation of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647823022) - 703541007 -> 66091009 (116680003) View
116680003 \|Is a (attribute)\|	66091009 \|Congenital disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647824027) - 703541007 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13647825026) - 703541007 -> 4830009 (116676008) View
116676008 \|Associated morphology (attribute)\|	4830009 \|Hyperpigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920323023) - 703541007 -> 724839001 (116680003) View
116680003 \|Is a (attribute)\|	724839001 \|Genetic disorder of skin pigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046531026) - 703541007 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046532022) - 703541007 -> 201281002 (116680003) View
116680003 \|Is a (attribute)\|	201281002 \|Café au lait spot (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5046535024) - 703541007 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
111474003 View
111474003	Disorder involving the integument of fetus or newborn (disorder)	Perinatal dermatological disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
49765009 View
49765009	Hyperpigmentation of skin (disorder)	Tăng sắc tố da	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
724839001 View
724839001	Genetic disorder of skin pigmentation (disorder)	Genetic disorder of skin pigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
66091009 View
66091009	Congenital disease (disorder)	Congenital disease	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
201281002 View
201281002	Café au lait spot (disorder)	Café au lait spot	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 (9b63d96b-71f3-57c9-a0f4-02158f4da2e6) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q85.8	TRUE	ALWAYS Q85.8	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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