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Terminology chevron_right Concepts chevron_right 82342003

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Component

82342003

The component that hold information about this concept.

Fully Specified Name (FSN)

Yellow mutant oculocutaneous albinism (disorder)

Shortest Term

Amish albinism

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

Yellow mutant oculocutaneous albinism (disorder)

SCTID: 82342003, Primitive, Active

82342003|Yellow mutant oculocutaneous albinism (disorder)|

en Xanthous albinism
en Yellow mutant oculocutaneous albinism
en Yellow mutant oculocutaneous albinism (disorder)
en Yellow oculocutaneous albinism
en Yellow-type albinism
en Amish albinism

Expression

82342003 |Yellow mutant oculocutaneous albinism (disorder)|
 <<< 6483008 |Tyrosinase-negative oculocutaneous albinism (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 37257004 |Decreased melanin pigmentation (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)| }
        { 116676008 |Associated morphology (attribute)| = 37257004 |Decreased melanin pigmentation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81745001 |Structure of eye proper (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
2647340015 - Xanthous albinism (en) View
2647340015	en	Synonym (core metadata concept)	Xanthous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
136582013 - Yellow mutant oculocutaneous albinism (en) View
136582013	en	Synonym (core metadata concept)	Yellow mutant oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
823745011 - Yellow mutant oculocutaneous albinism (disorder) (en) View
823745011	en	Fully specified name (core metadata concept)	Yellow mutant oculocutaneous albinism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1234701010 - Yellow oculocutaneous albinism (en) View
1234701010	en	Synonym (core metadata concept)	Yellow oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
136585010 - Yellow-type albinism (en) View
136585010	en	Synonym (core metadata concept)	Yellow-type albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
136583015 - Xanthos albinism (en) View
136583015	en	Synonym (core metadata concept)	Xanthos albinism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
136584014 - Amish albinism (en) View
136584014	en	Synonym (core metadata concept)	Amish albinism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3395683022) - 82342003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023245020) - 82342003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023246021) - 82342003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032663026) - 82342003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183785029) - 82342003 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11183786028) - 82342003 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3395680020) - 82342003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3395681024) - 82342003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3395682028) - 82342003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023243029) - 82342003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023244024) - 82342003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526684020) - 82342003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526685021) - 82342003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526686022) - 82342003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238093022) - 82342003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (879739023) - 82342003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4971828026) - 82342003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (879751020) - 82342003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2528166026) - 82342003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2738040022) - 82342003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2738041021) - 82342003 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (879745026) - 82342003 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2697482028) - 82342003 -> 238907001 (116680003) View
116680003 \|Is a (attribute)\|	238907001 \|Site-specific disorder of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (556497023) - 82342003 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (879740020) - 82342003 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (556498029) - 82342003 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (879746025) - 82342003 -> 90998002 (116676008) View
116676008 \|Associated morphology (attribute)\|	90998002 \|Yellow color (finding)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (281844023) - 82342003 -> 6483008 (116680003) View
116680003 \|Is a (attribute)\|	6483008 \|Tyrosinase-negative oculocutaneous albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
6483008 View
6483008	Tyrosinase-negative oculocutaneous albinism (disorder)	Tyrosinase-related oculocutaneous albinism	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 (1e681785-e234-5332-841c-4d0ff30c261e) 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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