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Terminology chevron_right Concepts chevron_right 721085000

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Component

721085000

The component that hold information about this concept.

Fully Specified Name (FSN)

Deafness, enamel hypoplasia, nail defect syndrome (disorder)

Shortest Term

Heimler 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

Deafness, enamel hypoplasia, nail defect syndrome (disorder)

SCTID: 721085000, Primitive, Active

721085000|Deafness, enamel hypoplasia, nail defect syndrome (disorder)|

en Deafness, enamel hypoplasia, nail defect syndrome
en Deafness, enamel hypoplasia, nail defect syndrome (disorder)
en Heimler syndrome

Expression

721085000 |Deafness, enamel hypoplasia, nail defect syndrome (disorder)|
 <<< 103276001 |Decreased hearing (finding)| + 
742876007 |Peroxisome biogenesis disorder (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
239040001 |Ectodermal dysplasia with tooth-nail defects (disorder)| + 
26597004 |Enamel hypoplasia (disorder)| + 
402775007 |Genetic disorder of nail (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1148766007 |Hereditary disorder of tooth (disorder)| + 
363185004 |Hereditary disorder of the integument (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 38199008 |Tooth 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)| = 770802007 |Nail unit 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)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 116676008 |Associated morphology (attribute)| = 55199003 |Hypoplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 76993005 |Enamel structure (body structure)|,
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
3323407010 - Deafness, enamel hypoplasia, nail defect syndrome (en) View
3323407010	en	Synonym (core metadata concept)	Deafness, enamel hypoplasia, nail defect syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323406018 - Deafness, enamel hypoplasia, nail defect syndrome (disorder) (en) View
3323406018	en	Fully specified name (core metadata concept)	Deafness, enamel hypoplasia, nail defect syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3323408017 - Heimler syndrome (en) View
3323408017	en	Synonym (core metadata concept)	Heimler syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6754251021) - 721085000 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091269028) - 721085000 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374422020) - 721085000 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16378176021) - 721085000 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528467025) - 721085000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528470026) - 721085000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528475020) - 721085000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528477028) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754247024) - 721085000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10549106025) - 721085000 -> 76993005 (363698007) View
363698007 \|Finding site (attribute)\|	76993005 \|Enamel structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10549107023) - 721085000 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091267026) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091268020) - 721085000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091271028) - 721085000 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15240721024) - 721085000 -> 103276001 (116680003) View
116680003 \|Is a (attribute)\|	103276001 \|Decreased hearing (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240722028) - 721085000 -> 742876007 (116680003) View
116680003 \|Is a (attribute)\|	742876007 \|Peroxisome biogenesis disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240724027) - 721085000 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240725026) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240726025) - 721085000 -> 38199008 (363698007) View
363698007 \|Finding site (attribute)\|	38199008 \|Tooth structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240727023) - 721085000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240728029) - 721085000 -> 76993005 (363698007) View
363698007 \|Finding site (attribute)\|	76993005 \|Enamel structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15240729021) - 721085000 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754248025) - 721085000 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754252025) - 721085000 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13717795023) - 721085000 -> 1148766007 (116680003) View
116680003 \|Is a (attribute)\|	1148766007 \|Hereditary disorder of tooth (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069300022) - 721085000 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754245027) - 721085000 -> 35964007 (116680003) View
116680003 \|Is a (attribute)\|	35964007 \|Congenital anomaly of nail (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754254029) - 721085000 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12091270027) - 721085000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754255028) - 721085000 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528463026) - 721085000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11226483022) - 721085000 -> 25723000 (116676008) View
116676008 \|Associated morphology (attribute)\|	25723000 \|Dysplasia (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11510251026) - 721085000 -> 402775007 (116680003) View
116680003 \|Is a (attribute)\|	402775007 \|Genetic disorder of nail (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754256027) - 721085000 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754259023) - 721085000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754260029) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754261025) - 721085000 -> 72651009 (363698007) View
363698007 \|Finding site (attribute)\|	72651009 \|Nail structure (body structure)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6754266024) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6755441025) - 721085000 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6755442021) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6755601025) - 721085000 -> 25283002 (116676008) View
116676008 \|Associated morphology (attribute)\|	25283002 \|Congenital dysplasia (morphologic abnormality)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6755602021) - 721085000 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	10	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6757613023) - 721085000 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6757614028) - 721085000 -> 55199003 (116676008) View
116676008 \|Associated morphology (attribute)\|	55199003 \|Hypoplasia (morphologic abnormality)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6757615027) - 721085000 -> 76993005 (363698007) View
363698007 \|Finding site (attribute)\|	76993005 \|Enamel structure (body structure)\|	9	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10528464021) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528465022) - 721085000 -> 63206006 (363698007) View
363698007 \|Finding site (attribute)\|	63206006 \|Ectoderm structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528471027) - 721085000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528474024) - 721085000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10528476021) - 721085000 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539364023) - 721085000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549108029) - 721085000 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11192816022) - 721085000 -> 770802007 (363698007) View
363698007 \|Finding site (attribute)\|	770802007 \|Nail unit structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754244028) - 721085000 -> 26597004 (116680003) View
116680003 \|Is a (attribute)\|	26597004 \|Enamel hypoplasia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754246026) - 721085000 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754249022) - 721085000 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754250022) - 721085000 -> 239040001 (116680003) View
116680003 \|Is a (attribute)\|	239040001 \|Ectodermal dysplasia with tooth-nail defects (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6754253024) - 721085000 -> 363185004 (116680003) View
116680003 \|Is a (attribute)\|	363185004 \|Hereditary disorder of the integument (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
1148766007 View
1148766007	Hereditary disorder of tooth (disorder)	Hereditary disorder of tooth	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
239040001 View
239040001	Ectodermal dysplasia with tooth-nail defects (disorder)	Ectodermal dysplasia with tooth-nail defects	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
402775007 View
402775007	Genetic disorder of nail (disorder)	Genetic disorder of nail	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
742876007 View
742876007	Peroxisome biogenesis disorder (disorder)	Peroxisome biogenesis disorder	900000000000074008 \|Necessary but not sufficient concept 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
26597004 View
26597004	Enamel hypoplasia (disorder)	Enamel hypoplasia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
60700002 View
60700002	Sensorineural hearing loss (disorder)	Mất thính giác	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
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

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 (177e269d-cb1c-5f15-88e5-c4aa9666a99d) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q84.6	TRUE	ALWAYS Q84.6	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 (7fede969-cef1-51fc-b144-459602f57775) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H90.5	TRUE	ALWAYS H90.5 \| 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)\|
ExtendedMap object (8644c346-1575-58f8-836b-cc8c85345e88) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	K00.4	TRUE	ALWAYS K00.4	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 (b93509d4-e0c4-51b9-92e2-d11f2133fa60) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q82.4	TRUE	ALWAYS Q82.4 \| 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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