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Component

237920001

The component that hold information about this concept.

Fully Specified Name (FSN)

Temperature-sensitive oculocutaneous albinism (disorder)

Shortest Term

Temperature-sensitive oculocutaneous 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

Temperature-sensitive oculocutaneous albinism (disorder)

SCTID: 237920001, Primitive, Active

237920001|Temperature-sensitive oculocutaneous albinism (disorder)|

en Temperature-sensitive oculocutaneous albinism
en Temperature-sensitive oculocutaneous albinism (disorder)

Expression

237920001 |Temperature-sensitive 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
356584017 - Temperature-sensitive oculocutaneous albinism (en) View
356584017	en	Synonym (core metadata concept)	Temperature-sensitive oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
626721017 - Temperature-sensitive oculocutaneous albinism (disorder) (en) View
626721017	en	Fully specified name (core metadata concept)	Temperature-sensitive oculocutaneous albinism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (3364605026) - 237920001 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023608020) - 237920001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023609028) - 237920001 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032718024) - 237920001 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183646029) - 237920001 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11183647022) - 237920001 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3364603022) - 237920001 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3364604027) - 237920001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3460014025) - 237920001 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023606024) - 237920001 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023607026) - 237920001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10526116027) - 237920001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526117020) - 237920001 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10526118026) - 237920001 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238585027) - 237920001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526873023) - 237920001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974015022) - 237920001 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (526872029) - 237920001 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2512004024) - 237920001 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2713151029) - 237920001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2713152020) - 237920001 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (460889024) - 237920001 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526874028) - 237920001 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (526875027) - 237920001 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (460890026) - 237920001 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (53547022) - 237920001 -> 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 (d2d9405f-0ce1-5f24-8903-0971c9f9ef6b) 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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