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Terminology chevron_right Concepts chevron_right 63844009

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Component

63844009

The component that hold information about this concept.

Fully Specified Name (FSN)

Oculocutaneous albinism (disorder)

Shortest Term

Total 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

Oculocutaneous albinism (disorder)

SCTID: 63844009, Primitive, Active

63844009|Oculocutaneous albinism (disorder)|

en Albinismus totalis
en Albinismus universalis
en Complete perfect albinism
en Complete universal albinism
en Oculocutaneous albinism
en Oculocutaneous albinism (disorder)
en Total albinism
en Oca - oculocutaneous albinism

Expression

63844009 |Oculocutaneous albinism (disorder)|
 <<< 85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
724839001 |Genetic disorder of skin pigmentation (disorder)| + 
61649007 |Congenital oculocutaneous hypopigmentation (disorder)| + 
15890002 |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
106105016 - Albinismus totalis (en) View
106105016	en	Synonym (core metadata concept)	Albinismus totalis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
106106015 - Albinismus universalis (en) View
106106015	en	Synonym (core metadata concept)	Albinismus universalis	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
106104017 - Complete perfect albinism (en) View
106104017	en	Synonym (core metadata concept)	Complete perfect albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
106108019 - Complete universal albinism (en) View
106108019	en	Synonym (core metadata concept)	Complete universal albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
106102018 - Oculocutaneous albinism (en) View
106102018	en	Synonym (core metadata concept)	Oculocutaneous albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
803172015 - Oculocutaneous albinism (disorder) (en) View
803172015	en	Fully specified name (core metadata concept)	Oculocutaneous albinism (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
106107012 - Total albinism (en) View
106107012	en	Synonym (core metadata concept)	Total albinism	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
1232507012 - OCA - Oculocutaneous albinism (en) View
1232507012	en	Synonym (core metadata concept)	OCA - Oculocutaneous albinism	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
106103011 - Oculocutaneous albinism, NOS (en) View
106103011	en	Synonym (core metadata concept)	Oculocutaneous albinism, NOS	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (2695038025) - 63844009 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (251946026) - 63844009 -> 15890002 (116680003) View
116680003 \|Is a (attribute)\|	15890002 \|Albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2695039022) - 63844009 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11292960020) - 63844009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12088608022) - 63844009 -> 78921008 (116680003) View
116680003 \|Is a (attribute)\|	78921008 \|Autosomal recessive ocular albinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3329059026) - 63844009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5023684024) - 63844009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023685020) - 63844009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5032727020) - 63844009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183545021) - 63844009 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11183546022) - 63844009 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3329056022) - 63844009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3329057029) - 63844009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (3329058023) - 63844009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023682023) - 63844009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5023683029) - 63844009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10519608024) - 63844009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10519609027) - 63844009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545641021) - 63844009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2695036026) - 63844009 -> 1953005 (116680003) View
116680003 \|Is a (attribute)\|	1953005 \|Congenital deficiency of pigment of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5991422022) - 63844009 -> 301905003 (116680003) View
116680003 \|Is a (attribute)\|	301905003 \|Lesion of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6442019029) - 63844009 -> 11131000119108 (116680003) View
116680003 \|Is a (attribute)\|	11131000119108 \|Anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9238148028) - 63844009 -> 61649007 (116680003) View
116680003 \|Is a (attribute)\|	61649007 \|Congenital oculocutaneous hypopigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9238149020) - 63844009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6920235020) - 63844009 -> 724839001 (116680003) View
116680003 \|Is a (attribute)\|	724839001 \|Genetic disorder of skin pigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4983814023) - 63844009 -> 371405004 (116680003) View
116680003 \|Is a (attribute)\|	371405004 \|Disorder of eye proper (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (833173022) - 63844009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2695037024) - 63844009 -> 19416009 (116680003) View
116680003 \|Is a (attribute)\|	19416009 \|Congenital anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4974563025) - 63844009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (833175026) - 63844009 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2519356024) - 63844009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2735535020) - 63844009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2735536021) - 63844009 -> 37257004 (116676008) View
116676008 \|Associated morphology (attribute)\|	37257004 \|Decreased melanin pigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (833170020) - 63844009 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (833172028) - 63844009 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (833174027) - 63844009 -> 43451003 (116676008) View
116676008 \|Associated morphology (attribute)\|	43451003 \|Congenital deficiency (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1679542021) - 63844009 -> 19416009 (116680003) View
116680003 \|Is a (attribute)\|	19416009 \|Congenital anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (833171024) - 63844009 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
15890002 View
15890002	Albinism (disorder)	Albinism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
724839001 View
724839001	Genetic disorder of skin pigmentation (disorder)	Genetic disorder of skin pigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
61649007 View
61649007	Congenital oculocutaneous hypopigmentation (disorder)	Congenital oculocutaneous hypopigmentation	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363185004 View
363185004	Hereditary disorder of the integument (disorder)	Hereditary disorder of the integument	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1332382002 View
1332382002	Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Commad syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1300116006 View
1300116006	Oculocutaneous albinism type 8 (disorder)	Oculocutaneous albinism type 8	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
6483008 View
6483008	Tyrosinase-negative oculocutaneous albinism (disorder)	Tyrosinase-related oculocutaneous albinism	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
765146000 View
765146000	Oculocutaneous albinism type 1 (disorder)	Oculocutaneous albinism type 1	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719377004 View
719377004	Microcephalus with albinism and digital anomaly syndrome (disorder)	Castro gago pombo novo syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722057000 View
722057000	Oculocutaneous albinism type 5 (disorder)	Oculocutaneous albinism type 5	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722058005 View
722058005	Oculocutaneous albinism type 6 (disorder)	Oculocutaneous albinism type 6	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
722059002 View
722059002	Oculocutaneous albinism type 7 (disorder)	Oculocutaneous albinism type 7	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715632003 View
715632003	Oculocutaneous albinism type 4 (disorder)	Oculocutaneous albinism type 4	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
10170007 View
10170007	Black locks, oculocutaneous albinism, and deafness of the sensorineural type (disorder)	Bads syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
17827007 View
17827007	Cross syndrome (disorder)	Cross syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
26336006 View
26336006	Tyrosinase-positive oculocutaneous albinism (disorder)	Albinoidism	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 (1f1c615e-70d9-56ab-a1bc-5005ef76edb8) 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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