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Terminology chevron_right Concepts chevron_right 63450009

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Component

63450009

The component that hold information about this concept.

Fully Specified Name (FSN)

Rufous albinism (disorder)

Shortest Term

Xanthism

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

Rufous albinism (disorder)

SCTID: 63450009, Primitive, Active

63450009|Rufous albinism (disorder)|

en Red-skin albinism
en Rufous albinism
en Rufous albinism (disorder)
en Rufous oculocutaneous albinism
en Xanthism

Expression

63450009 |Rufous albinism (disorder)|
 <<< 26336006 |Tyrosinase-positive 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
105471010 - Red-skin albinism (en) View
105471010	en	Synonym (core metadata concept)	Red-skin albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
105470011 - Rufous albinism (en) View
105470011	en	Synonym (core metadata concept)	Rufous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
802734013 - Rufous albinism (disorder) (en) View
802734013	en	Fully specified name (core metadata concept)	Rufous albinism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
499595015 - Rufous oculocutaneous albinism (en) View
499595015	en	Synonym (core metadata concept)	Rufous oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
2536411012 - Xanthism (en) View
2536411012	en	Synonym (core metadata concept)	Xanthism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2735472027) - 63450009 -> 37200009 (42752001) View
42752001 \|Due to (attribute)\|	37200009 \|Disorder of tyrosine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3468547028) - 63450009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023112029) - 63450009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023113023) - 63450009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5030400026) - 63450009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183359026) - 63450009 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11183360020) - 63450009 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3386731029) - 63450009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3386732020) - 63450009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3386733026) - 63450009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023110021) - 63450009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023111020) - 63450009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10525780027) - 63450009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10525781028) - 63450009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10546239024) - 63450009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238471023) - 63450009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (832238021) - 63450009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4970939021) - 63450009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (832237027) - 63450009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2518919025) - 63450009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2735471023) - 63450009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2735473021) - 63450009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (534013022) - 63450009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832232022) - 63450009 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832236020) - 63450009 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (534014027) - 63450009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832239029) - 63450009 -> 79642002 (116676008) View
116676008 \|Associated morphology (attribute)\|	79642002 \|Red color (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (251311025) - 63450009 -> 26336006 (116680003) View
116680003 \|Is a (attribute)\|	26336006 \|Tyrosinase-positive oculocutaneous albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
26336006 View
26336006	Tyrosinase-positive oculocutaneous albinism (disorder)	Albinoidism	900000000000074008 \|Necessary but not sufficient concept 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 (be556ebd-3671-51c5-aea2-6ff642fcf327) 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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