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Terminology chevron_right Concepts chevron_right 47434006

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Component

47434006

The component that hold information about this concept.

Fully Specified Name (FSN)

Waardenburg's syndrome (disorder)

Shortest Term

Waardenburg syndrome

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

Waardenburg's syndrome (disorder)

SCTID: 47434006, Primitive, Active

47434006|Waardenburg's syndrome (disorder)|

en Waardenburg syndrome (disorder)
en Waardenburg syndrome
en Waardenburg's syndrome

Expression

47434006 |Waardenburg's syndrome (disorder)|
 <<< 232333009 |Hearing loss associated with syndrome (disorder)| + 
724839001 |Genetic disorder of skin pigmentation (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
95827002 |Congenital hearing disorder (disorder)| + 
1953005 |Congenital deficiency of pigment of skin (disorder)| + 
103276001 |Decreased hearing (finding)| : 
        { 116676008 |Associated morphology (attribute)| = 89031001 |Hypopigmentation (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)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
784892016 - Waardenburg's syndrome (disorder) (en) View
784892016	en	Fully specified name (core metadata concept)	Waardenburg's syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	False
5143440010 - Waardenburg syndrome (disorder) (en) View
5143440010	en	Fully specified name (core metadata concept)	Waardenburg syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
79085011 - Waardenburg, types I AND/OR II (en) View
79085011	en	Synonym (core metadata concept)	Waardenburg, types I AND/OR II	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	False
494829014 - White forelock syndrome (en) View
494829014	en	Synonym (core metadata concept)	White forelock syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	False
2841707016 - Waardenburg syndrome (en) View
2841707016	en	Synonym (core metadata concept)	Waardenburg syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
79083016 - Waardenburg's syndrome (en) View
79083016	en	Synonym (core metadata concept)	Waardenburg's syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
79084010 - Waardenburg, types I and II (en) View
79084010	en	Synonym (core metadata concept)	Waardenburg, types I and II	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9263346025) - 47434006 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9263350021) - 47434006 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9263353023) - 47434006 -> 1899006 (116680003) View
116680003 \|Is a (attribute)\|	1899006 \|Autosomal hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528809024) - 47434006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12086695021) - 47434006 -> 25906001 (116680003) View
116680003 \|Is a (attribute)\|	25906001 \|Disorder of ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13068964025) - 47434006 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15392648023) - 47434006 -> 103276001 (116680003) View
116680003 \|Is a (attribute)\|	103276001 \|Decreased hearing (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15392649026) - 47434006 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15392650026) - 47434006 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086694020) - 47434006 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12086696022) - 47434006 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9263351020) - 47434006 -> 83386001 (116676008) View
116676008 \|Associated morphology (attribute)\|	83386001 \|Congenital hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528808027) - 47434006 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11183976023) - 47434006 -> 89031001 (116676008) View
116676008 \|Associated morphology (attribute)\|	89031001 \|Hypopigmentation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (225296027) - 47434006 -> 65094009 (116680003) View
116680003 \|Is a (attribute)\|	65094009 \|Multiple malformation syndrome with facial defects as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020590027) - 47434006 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5020591028) - 47434006 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9263347023) - 47434006 -> 1953005 (116680003) View
116680003 \|Is a (attribute)\|	1953005 \|Congenital deficiency of pigment of skin (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9263348029) - 47434006 -> 724839001 (116680003) View
116680003 \|Is a (attribute)\|	724839001 \|Genetic disorder of skin pigmentation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9263349021) - 47434006 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9263352029) - 47434006 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9263354028) - 47434006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9263355027) - 47434006 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (791124021) - 47434006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2267395024) - 47434006 -> 112635002 (116676008) View
116676008 \|Associated morphology (attribute)\|	112635002 \|Congenital malformation (morphologic abnormality)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997287028) - 47434006 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (225295028) - 47434006 -> 312557001 (116680003) View
116680003 \|Is a (attribute)\|	312557001 \|Multisystem disorder w-x (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
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
95827002 View
95827002	Congenital hearing disorder (disorder)	Congenital hearing disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
103276001 View
103276001	Decreased hearing (finding)	Nghe kém	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1953005 View
1953005	Congenital deficiency of pigment of skin (disorder)	Congenital deficiency of pigment of skin	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1010606009 View
1010606009	Waardenburg syndrome type 1 (disorder)	Waardenburg syndrome type i	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1010636000 View
1010636000	Waardenburg syndrome type 2 (disorder)	Waardenburg syndrome type 2	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
765325002 View
765325002	Peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, waardenburg syndrome, hirschsprung disease (disorder)	Neurologic waardenburg shah syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
715952000 View
715952000	Waardenburg shah syndrome (disorder)	Shah waardenburg syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
237918004 View
237918004	Klein-waardenberg's syndrome (disorder)	Klein-waardenberg syndrome	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 (3d13ae50-6b96-5b70-9a07-c89caaedc185) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q89.8	TRUE	ALWAYS Q89.8	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)\|
ExtendedMap object (e681e54a-429f-5409-b416-ac1c74f71726) 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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