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Terminology chevron_right Concepts chevron_right 1003381002

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Component

1003381002

The component that hold information about this concept.

Fully Specified Name (FSN)

Onycho-tricho-dysplasia neutropenia syndrome (disorder)

Shortest Term

Trichothiodystrophy type g

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

Onycho-tricho-dysplasia neutropenia syndrome (disorder)

SCTID: 1003381002, Primitive, Active

1003381002|Onycho-tricho-dysplasia neutropenia syndrome (disorder)|

en Onycho-tricho-dysplasia neutropenia syndrome
en Onycho-tricho-dysplasia neutropenia syndrome (disorder)
en Trichothiodystrophy type g

Expression

1003381002 |Onycho-tricho-dysplasia neutropenia syndrome (disorder)|
 <<< 89655007 |Congenital neutropenia (disorder)| + 
723551003 |Trichothiodystrophy (disorder)| + 
414395005 |Hereditary white blood cell disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 37111008 |Hair shaft structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 30630007 |Neutrophil count (procedure)| }
        { 370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
4165148014 - Onycho-tricho-dysplasia neutropenia syndrome (en) View
4165148014	en	Synonym (core metadata concept)	Onycho-tricho-dysplasia neutropenia syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4165149018 - Onycho-tricho-dysplasia neutropenia syndrome (disorder) (en) View
4165149018	en	Fully specified name (core metadata concept)	Onycho-tricho-dysplasia neutropenia syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4168119019 - Trichothiodystrophy type G (en) View
4168119019	en	Synonym (core metadata concept)	Trichothiodystrophy type G	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13185192026) - 1003381002 -> 6920004 (116676008) View
116676008 \|Associated morphology (attribute)\|	6920004 \|Defect (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15551741023) - 1003381002 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185186021) - 1003381002 -> 723551003 (116680003) View
116680003 \|Is a (attribute)\|	723551003 \|Trichothiodystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185187028) - 1003381002 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185188022) - 1003381002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185189025) - 1003381002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185190023) - 1003381002 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185191022) - 1003381002 -> 37111008 (363698007) View
363698007 \|Finding site (attribute)\|	37111008 \|Hair shaft structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185193020) - 1003381002 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13185194025) - 1003381002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186444028) - 1003381002 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186445027) - 1003381002 -> 30630007 (363714003) View
363714003 \|Interprets (attribute)\|	30630007 \|Neutrophil count (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186446026) - 1003381002 -> 89655007 (116680003) View
116680003 \|Is a (attribute)\|	89655007 \|Congenital neutropenia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186447024) - 1003381002 -> 414395005 (116680003) View
116680003 \|Is a (attribute)\|	414395005 \|Hereditary white blood cell disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13186448025) - 1003381002 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
723551003 View
723551003	Trichothiodystrophy (disorder)	Trichothiodystrophy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
414395005 View
414395005	Hereditary white blood cell disorder (disorder)	Hereditary white blood cell disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
89655007 View
89655007	Congenital neutropenia (disorder)	Kostmann's syndrome	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 (0cc0f08e-8f2f-5f9c-b7f4-29f5e83a7011) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	L67.8	TRUE	ALWAYS L67.8 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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)\|
ExtendedMap object (df4d8aff-6488-51b7-8c96-e18967256fd0) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	D70	TRUE	ALWAYS D70	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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