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Terminology chevron_right Concepts chevron_right 239084001

Production

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Component

239084001

The component that hold information about this concept.

Fully Specified Name (FSN)

Naegeli-franceschetti-jadassohn syndrome (disorder)

Shortest Term

Naegeli's 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

Naegeli-franceschetti-jadassohn syndrome (disorder)

SCTID: 239084001, Primitive, Active

239084001|Naegeli-franceschetti-jadassohn syndrome (disorder)|

en Naegeli-franceschetti-jadassohn syndrome (disorder)
en Franceschetti-jadassohn syndrome
en Naegeli-franceschetti-jadassohn syndrome
en Naegeli's syndrome

Expression

239084001 |Naegeli-franceschetti-jadassohn syndrome (disorder)|
 <<< 239079007 |Inherited cutaneous hyperpigmentation (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)|,
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
628052018 - Naegeli-Franceschetti-Jadassohn syndrome (disorder) (en) View
628052018	en	Fully specified name (core metadata concept)	Naegeli-Franceschetti-Jadassohn syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
358298015 - Franceschetti-Jadassohn syndrome (en) View
358298015	en	Synonym (core metadata concept)	Franceschetti-Jadassohn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
358296016 - Naegeli-Franceschetti-Jadassohn syndrome (en) View
358296016	en	Synonym (core metadata concept)	Naegeli-Franceschetti-Jadassohn syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
358297013 - Naegeli's syndrome (en) View
358297013	en	Synonym (core metadata concept)	Naegeli's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (461654027) - 239084001 -> 4830009 (116676008) View
116676008 \|Associated morphology (attribute)\|	4830009 \|Hyperpigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (461657023) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3082130020) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031927027) - 239084001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031928021) - 239084001 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5031929029) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9649254021) - 239084001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10517905029) - 239084001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11106007021) - 239084001 -> 4830009 (116676008) View
116676008 \|Associated morphology (attribute)\|	4830009 \|Hyperpigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (530647025) - 239084001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1730804020) - 239084001 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3082129026) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2959432021) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2959433027) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2894102029) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2894103023) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2800542022) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2800543028) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (530644021) - 239084001 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2575499021) - 239084001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (55193025) - 239084001 -> 239079007 (116680003) View
116680003 \|Is a (attribute)\|	239079007 \|Inherited cutaneous hyperpigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
239079007 View
239079007	Inherited cutaneous hyperpigmentation (disorder)	Inherited cutaneous hyperpigmentation	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 (7e918f91-fd95-5988-94da-379988101a5e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.4	TRUE	ALWAYS Q82.4	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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