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Component

37548006

The component that hold information about this concept.

Fully Specified Name (FSN)

Hypopigmentation-immunodeficiency disease (disorder)

Shortest Term

Giscelli 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

Hypopigmentation-immunodeficiency disease (disorder)

SCTID: 37548006, Primitive, Active

37548006|Hypopigmentation-immunodeficiency disease (disorder)|

en Hypopigmentation-immunodeficiency disease
en Hypopigmentation-immunodeficiency disease (disorder)
en Partial albinism with immunodeficiency
en Griscelli syndrome
en Chediak-higashi-like syndrome
en Griscelli syndrome with immunodeficiency

Expression

37548006 |Hypopigmentation-immunodeficiency disease (disorder)|
 <<< 234641000 |Immunodeficiency associated with multiple organ system abnormalities (disorder)| + 
414032001 |Disorder of pigmentation (disorder)| + 
276654001 |Congenital malformation (disorder)| + 
37200009 |Disorder of tyrosine metabolism (disorder)| + 
36138009 |Congenital immunodeficiency disease (disorder)|
        { 363698007 |Finding site (attribute)| = 116003000 |Structure of immune system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 769247005 |Abnormal immune process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 37257004 |Decreased melanin pigmentation (morphologic abnormality)|,
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
62635016 - Hypopigmentation-immunodeficiency disease (en) View
62635016	en	Synonym (core metadata concept)	Hypopigmentation-immunodeficiency disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
769427015 - Hypopigmentation-immunodeficiency disease (disorder) (en) View
769427015	en	Fully specified name (core metadata concept)	Hypopigmentation-immunodeficiency disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
486744015 - Partial albinism with immunodeficiency (en) View
486744015	en	Synonym (core metadata concept)	Partial albinism with immunodeficiency	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
62636015 - Giscelli syndrome (en) View
62636015	en	Synonym (core metadata concept)	Giscelli syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
213742016 - Griscelli syndrome (en) View
213742016	en	Synonym (core metadata concept)	Griscelli syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
486742016 - Chediak-Higashi-like syndrome (en) View
486742016	en	Synonym (core metadata concept)	Chediak-Higashi-like syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
486743014 - Griscelli syndrome with immunodeficiency (en) View
486743014	en	Synonym (core metadata concept)	Griscelli syndrome with immunodeficiency	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (209021020) - 37548006 -> 15890002 (116680003) View
116680003 \|Is a (attribute)\|	15890002 \|Albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (209022029) - 37548006 -> 363138005 (116680003) View
116680003 \|Is a (attribute)\|	363138005 \|Hereditary disorder of immune system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023739027) - 37548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11170023021) - 37548006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12080244022) - 37548006 -> 276654001 (116680003) View
116680003 \|Is a (attribute)\|	276654001 \|Congenital malformation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12080245023) - 37548006 -> 414032001 (116680003) View
116680003 \|Is a (attribute)\|	414032001 \|Disorder of pigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12080246024) - 37548006 -> 769247005 (370135005) View
370135005 \|Pathological process (attribute)\|	769247005 \|Abnormal immune process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (765726026) - 37548006 -> 116003000 (363698007) View
363698007 \|Finding site (attribute)\|	116003000 \|Structure of immune system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (765733026) - 37548006 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023737025) - 37548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5026768020) - 37548006 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525617025) - 37548006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11571526020) - 37548006 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571527027) - 37548006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11571528021) - 37548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5026767026) - 37548006 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2732000022) - 37548006 -> 106182000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	106182000 \|Immune system finding (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765729022) - 37548006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2524651020) - 37548006 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2732001021) - 37548006 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765730028) - 37548006 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2691429026) - 37548006 -> 238907001 (116680003) View
116680003 \|Is a (attribute)\|	238907001 \|Site-specific disorder of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2691430020) - 37548006 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2691432028) - 37548006 -> 1953005 (116680003) View
116680003 \|Is a (attribute)\|	1953005 \|Congenital deficiency of pigment of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765728025) - 37548006 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2595019024) - 37548006 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2691431024) - 37548006 -> 37200009 (116680003) View
116680003 \|Is a (attribute)\|	37200009 \|Disorder of tyrosine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (765727024) - 37548006 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1765159025) - 37548006 -> 371398005 (363698007) View
363698007 \|Finding site (attribute)\|	371398005 \|Eye region structure (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765731029) - 37548006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (765732020) - 37548006 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (209023023) - 37548006 -> 234641000 (116680003) View
116680003 \|Is a (attribute)\|	234641000 \|Immunodeficiency associated with multiple organ system abnormalities (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (209024028) - 37548006 -> 36138009 (116680003) View
116680003 \|Is a (attribute)\|	36138009 \|Congenital immunodeficiency disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
414032001 View
414032001	Disorder of pigmentation (disorder)	Disorder of pigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
276654001 View
276654001	Congenital malformation (disorder)	Dị tật bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
36138009 View
36138009	Congenital immunodeficiency disease (disorder)	Congenital immunodeficiency disease	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
37200009 View
37200009	Disorder of tyrosine metabolism (disorder)	Disorder of tyrosine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
234641000 View
234641000	Immunodeficiency associated with multiple organ system abnormalities (disorder)	Immunodeficiency associated with multiple organ system abnormalities	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1254946006 View
1254946006	Hypopigmentation-immunodeficiency disease type 1 (disorder)	Griscelli syndrome type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1254947002 View
1254947002	Hypopigmentation-immunodeficiency disease type 3 (disorder)	Griscelli syndrome type 3	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 (f591fa70-d2f7-5413-833d-38c750309991) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E70.3	TRUE	ALWAYS E70.3	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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