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Terminology chevron_right Concepts chevron_right 720639008

Production

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Component

720639008

The component that hold information about this concept.

Fully Specified Name (FSN)

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)

Shortest Term

Chime 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

Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)

SCTID: 720639008, Primitive, Active

720639008|Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)|

en Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome
en Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)
en Chime (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome
en Chime syndrome
en Neuroectodermal dysplasia chime type
en Zunich kaye syndrome

Expression

720639008 |Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)|
 <<< 8654005 |Ectodermal dysplasia (disorder)| + 
13213009 |Congenital heart disease (disorder)| + 
65094009 |Multiple malformation syndrome with facial defects as major feature (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
93390002 |Congenital ocular coloboma (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363005004 |Cardiovascular system hereditary disorder (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 371520008 |Developmental failure of fusion (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)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 80891009 |Heart structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 25723000 |Dysplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 63206006 |Ectoderm structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 89545001 |Face structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (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)| }
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 247573007 |Intellectual ability (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 260379002 |Impaired (qualifier value)|,
363714003 |Interprets (attribute)| = 406208005 |Adaptation behavior (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3321629011 - Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (en) View
3321629011	en	Synonym (core metadata concept)	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321628015 - Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder) (en) View
3321628015	en	Fully specified name (core metadata concept)	Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability ear anomaly syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3321631019 - CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome (en) View
3321631019	en	Synonym (core metadata concept)	CHIME (coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, ear anomaly) syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3321630018 - CHIME syndrome (en) View
3321630018	en	Synonym (core metadata concept)	CHIME syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
3321632014 - Neuroectodermal dysplasia CHIME type (en) View
3321632014	en	Synonym (core metadata concept)	Neuroectodermal dysplasia CHIME type	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3321633016 - Zunich Kaye syndrome (en) View
3321633016	en	Synonym (core metadata concept)	Zunich Kaye syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6684071028) - 720639008 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374416027) - 720639008 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9127893025) - 720639008 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316735026) - 720639008 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094989022) - 720639008 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15094990029) - 720639008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096353022) - 720639008 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15096354027) - 720639008 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091203029) - 720639008 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13069255023) - 720639008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684075021) - 720639008 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091201027) - 720639008 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12091202023) - 720639008 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545324029) - 720639008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11225502022) - 720639008 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6574602025) - 720639008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684077029) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684079026) - 720639008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684080028) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684083026) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684085022) - 720639008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684086023) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686262025) - 720639008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6686478026) - 720639008 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6687372024) - 720639008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6689304028) - 720639008 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6689305027) - 720639008 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10515855021) - 720639008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515858023) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515859026) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515861024) - 720639008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515862028) - 720639008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515863022) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515864027) - 720639008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515866025) - 720639008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515867023) - 720639008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515868029) - 720639008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515870022) - 720639008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10515871021) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10537892027) - 720639008 -> 89545001 (363698007) View
363698007 \|Finding site (attribute)\|	89545001 \|Face structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10545320022) - 720639008 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548326028) - 720639008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10548327021) - 720639008 -> 80891009 (363698007) View
363698007 \|Finding site (attribute)\|	80891009 \|Heart structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684068020) - 720639008 -> 91138005 (116680003) View
116680003 \|Is a (attribute)\|	91138005 \|Mental retardation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6578301022) - 720639008 -> 4541003 (116676008) View
116676008 \|Associated morphology (attribute)\|	4541003 \|Congenital failure of fusion (morphologic abnormality)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6578302026) - 720639008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6684089027) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6940198024) - 720639008 -> 371520008 (116676008) View
116676008 \|Associated morphology (attribute)\|	371520008 \|Developmental failure of fusion (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940199027) - 720639008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6940200029) - 720639008 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684064022) - 720639008 -> 8654005 (116680003) View
116680003 \|Is a (attribute)\|	8654005 \|Ectodermal dysplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684065023) - 720639008 -> 13213009 (116680003) View
116680003 \|Is a (attribute)\|	13213009 \|Congenital heart disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684066024) - 720639008 -> 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)\|	True
Relationship (6684067026) - 720639008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684069028) - 720639008 -> 93390002 (116680003) View
116680003 \|Is a (attribute)\|	93390002 \|Congenital ocular coloboma (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684070027) - 720639008 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684072024) - 720639008 -> 363005004 (116680003) View
116680003 \|Is a (attribute)\|	363005004 \|Cardiovascular system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684073025) - 720639008 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6684074020) - 720639008 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (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
1362108000 View
1362108000	Genetic intellectual disability (disorder)	Genetic intellectual disability	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
8654005 View
8654005	Ectodermal dysplasia (disorder)	Ectodermal dysplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
93390002 View
93390002	Congenital ocular coloboma (disorder)	Coloboma of eye	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
13213009 View
13213009	Congenital heart disease (disorder)	Bệnh tim bẩm sinh	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
65094009 View
65094009	Multiple malformation syndrome with facial defects as major feature (disorder)	Multiple malformation syndrome with facial defects as major feature	900000000000074008 \|Necessary but not sufficient concept 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
232333009 View
232333009	Hearing loss associated with syndrome (disorder)	Syndromal deafness	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363005004 View
363005004	Cardiovascular system hereditary disorder (disorder)	Cardiovascular system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions 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

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (1aa11f65-46d9-55c7-b5c9-6a8094b058bc) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8 \| 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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