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Terminology chevron_right Concepts chevron_right 4041005

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Component

4041005

The component that hold information about this concept.

Fully Specified Name (FSN)

Congenital anomaly of macula (disorder)

Shortest Term

Congenital anomaly of macula

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

Congenital anomaly of macula (disorder)

SCTID: 4041005, Defined, Active

4041005|Congenital anomaly of macula (disorder)|

en Congenital anomaly of macula
en Congenital anomaly of macula (disorder)

Expression

4041005 |Congenital anomaly of macula (disorder)|
 === 49381001 |Congenital anomaly of retina (disorder)| + 
312999006 |Disorder of macula of retina (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 82859000 |Macula lutea 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
7960013 - Congenital anomaly of macula (en) View
7960013	en	Synonym (core metadata concept)	Congenital anomaly of macula	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
777050011 - Congenital anomaly of macula (disorder) (en) View
777050011	en	Fully specified name (core metadata concept)	Congenital anomaly of macula (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
7961012 - Congenital anomaly of macula, NOS (en) View
7961012	en	Synonym (core metadata concept)	Congenital anomaly of macula, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (4980963022) - 4041005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4980964027) - 4041005 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020303024) - 4041005 -> 82859000 (363698007) View
363698007 \|Finding site (attribute)\|	82859000 \|Macula lutea structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5837573023) - 4041005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5837574028) - 4041005 -> 82859000 (363698007) View
363698007 \|Finding site (attribute)\|	82859000 \|Macula lutea structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523951025) - 4041005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523952021) - 4041005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (773077025) - 4041005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3416033025) - 4041005 -> 82859000 (363698007) View
363698007 \|Finding site (attribute)\|	82859000 \|Macula lutea structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3447975025) - 4041005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (512734025) - 4041005 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (773075022) - 4041005 -> 82859000 (363698007) View
363698007 \|Finding site (attribute)\|	82859000 \|Macula lutea structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (773076023) - 4041005 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1674663025) - 4041005 -> 312999006 (116680003) View
116680003 \|Is a (attribute)\|	312999006 \|Disorder of macula of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (213904025) - 4041005 -> 49381001 (116680003) View
116680003 \|Is a (attribute)\|	49381001 \|Congenital anomaly of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
312999006 View
312999006	Disorder of macula of retina (disorder)	Maculopathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
49381001 View
49381001	Congenital anomaly of retina (disorder)	Congenital anomaly of retina	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1144408000 View
1144408000	Congenital hypoplasia of macula lutea (disorder)	Congenital macular hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
737579002 View
737579002	Congenital coloboma of macula lutea (disorder)	Coloboma of macula	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
725289009 View
725289009	5-amino-4-imidazole carboxamide ribosiduria (disorder)	5-amino-4-imidazole carboxamide ribosiduria	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
720856002 View
720856002	Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome (disorder)	Eem syndrome	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 (9bfb8077-33b1-5fd3-b91a-05d3fb2f82fa) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q14.1	TRUE	ALWAYS Q14.1	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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