dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 6483008

Production

add

Component

6483008

The component that hold information about this concept.

Fully Specified Name (FSN)

Tyrosinase-negative oculocutaneous albinism (disorder)

Shortest Term

Tyrosinase-related oculocutaneous albinism

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

Tyrosinase-negative oculocutaneous albinism (disorder)

SCTID: 6483008, Defined, Active

6483008|Tyrosinase-negative oculocutaneous albinism (disorder)|

en Tyrosinase-negative oculocutaneous albinism
en Tyrosinase-negative oculocutaneous albinism (disorder)
en Tyrosinase-related oculocutaneous albinism
en Oca1 - tyrosinase-negative oculocutaneous albinism

Expression

6483008 |Tyrosinase-negative oculocutaneous albinism (disorder)|
 === 63844009 |Oculocutaneous albinism (disorder)| + 
37200009 |Disorder of tyrosine metabolism (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
11757016 - Tyrosinase-negative oculocutaneous albinism (en) View
11757016	en	Synonym (core metadata concept)	Tyrosinase-negative oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
804267012 - Tyrosinase-negative oculocutaneous albinism (disorder) (en) View
804267012	en	Fully specified name (core metadata concept)	Tyrosinase-negative oculocutaneous albinism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1232616015 - Tyrosinase-related oculocutaneous albinism (en) View
1232616015	en	Synonym (core metadata concept)	Tyrosinase-related oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1232615016 - OCA1 - Tyrosinase-negative oculocutaneous albinism (en) View
1232615016	en	Synonym (core metadata concept)	OCA1 - Tyrosinase-negative oculocutaneous albinism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2735662020) - 6483008 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3415586025) - 6483008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3415587023) - 6483008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023542024) - 6483008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023543025) - 6483008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023544020) - 6483008 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032707024) - 6483008 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516891024) - 6483008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183707023) - 6483008 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11183708029) - 6483008 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11305537029) - 6483008 -> 37200009 (116680003) View
116680003 \|Is a (attribute)\|	37200009 \|Disorder of tyrosine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3415588029) - 6483008 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023541028) - 6483008 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10516890020) - 6483008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10516892028) - 6483008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3415589021) - 6483008 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9238194025) - 6483008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (835793023) - 6483008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4973660029) - 6483008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (835792029) - 6483008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2525739021) - 6483008 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2735663026) - 6483008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (536028020) - 6483008 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (835787026) - 6483008 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (835794028) - 6483008 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (536029028) - 6483008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (253564023) - 6483008 -> 63844009 (116680003) View
116680003 \|Is a (attribute)\|	63844009 \|Oculocutaneous albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
63844009 View
63844009	Oculocutaneous albinism (disorder)	Total albinism	900000000000074008 \|Necessary but not sufficient concept 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

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
82342003 View
82342003	Yellow mutant oculocutaneous albinism (disorder)	Amish albinism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237919007 View
237919007	Minimal pigment oculocutaneous albinism (disorder)	Platinum oculocutaneous albinism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237920001 View
237920001	Temperature-sensitive oculocutaneous albinism (disorder)	Temperature-sensitive oculocutaneous albinism	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 (6bfebf21-220f-5d8e-8acc-fc32a76ba026) 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)\|

Terminology chevron_right Concepts chevron_right 6483008

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches