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Terminology chevron_right Concepts chevron_right 719689005

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Component

719689005

The component that hold information about this concept.

Fully Specified Name (FSN)

Multiple epiphyseal dysplasia beighton type (disorder)

Shortest Term

Multiple epiphyseal dysplasia beighton type

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

Multiple epiphyseal dysplasia beighton type (disorder)

SCTID: 719689005, Primitive, Active

719689005|Multiple epiphyseal dysplasia beighton type (disorder)|

en Multiple epiphyseal dysplasia with myopia and deafness syndrome
en Multiple epiphyseal dysplasia beighton type
en Multiple epiphyseal dysplasia beighton type (disorder)

Expression

719689005 |Multiple epiphyseal dysplasia beighton type (disorder)|
 <<< 11164009 |Autosomal dominant hereditary disorder (disorder)| + 
59708000 |Multiple epiphyseal dysplasia (disorder)| + 
737344003 |Congenital conductive hearing loss (disorder)| + 
232325008 |Chronic deafness (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 43719000 |Structure of epiphysis (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 117590005 |Ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363714003 |Interprets (attribute)| = 271603002 |Height / growth measure (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3317499015 - Multiple epiphyseal dysplasia with myopia and deafness syndrome (en) View
3317499015	en	Synonym (core metadata concept)	Multiple epiphyseal dysplasia with myopia and deafness syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3317498011 - Multiple epiphyseal dysplasia Beighton type (en) View
3317498011	en	Synonym (core metadata concept)	Multiple epiphyseal dysplasia Beighton type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True
3317497018 - Multiple epiphyseal dysplasia Beighton type (disorder) (en) View
3317497018	en	Fully specified name (core metadata concept)	Multiple epiphyseal dysplasia Beighton type (disorder)	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (12091025029) - 719689005 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374405023) - 719689005 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091026028) - 719689005 -> 128297008 (116680003) View
116680003 \|Is a (attribute)\|	128297008 \|Chronic disease of ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15399193026) - 719689005 -> 232325008 (116680003) View
116680003 \|Is a (attribute)\|	232325008 \|Chronic deafness (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13280507022) - 719689005 -> 271603002 (363714003) View
363714003 \|Interprets (attribute)\|	271603002 \|Height / growth measure (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091022026) - 719689005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091023020) - 719689005 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091024025) - 719689005 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091027021) - 719689005 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091028027) - 719689005 -> 737344003 (116680003) View
116680003 \|Is a (attribute)\|	737344003 \|Congenital conductive hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091029024) - 719689005 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091030025) - 719689005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523106029) - 719689005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225180022) - 719689005 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11576403028) - 719689005 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6771214028) - 719689005 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6771215027) - 719689005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6771216026) - 719689005 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10523103021) - 719689005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523104026) - 719689005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10523105025) - 719689005 -> 43719000 (363698007) View
363698007 \|Finding site (attribute)\|	43719000 \|Structure of epiphysis (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640836024) - 719689005 -> 11164009 (116680003) View
116680003 \|Is a (attribute)\|	11164009 \|Autosomal dominant hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6640837026) - 719689005 -> 59708000 (116680003) View
116680003 \|Is a (attribute)\|	59708000 \|Multiple epiphyseal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
788953003 View
788953003	Hereditary hearing loss (disorder)	Hereditary hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
232325008 View
232325008	Chronic deafness (disorder)	Chronic deafness	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
737344003 View
737344003	Congenital conductive hearing loss (disorder)	Congenital conductive hearing loss	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
11164009 View
11164009	Autosomal dominant hereditary disorder (disorder)	Ad - autosomal dominant	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
59708000 View
59708000	Multiple epiphyseal dysplasia (disorder)	Multiple epiphyseal dysplasia	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 (9278cce8-6052-537b-ab46-26467933319e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q77.3	TRUE	ALWAYS Q77.3 \| POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION	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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