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Terminology chevron_right Concepts chevron_right 63702009

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Component

63702009

The component that hold information about this concept.

Fully Specified Name (FSN)

Alstrom syndrome (disorder)

Shortest Term

Alstrom 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

Alstrom syndrome (disorder)

SCTID: 63702009, Primitive, Active

63702009|Alstrom syndrome (disorder)|

en Alstrom syndrome (disorder)
en Alstrom syndrome

Expression

63702009 |Alstrom syndrome (disorder)|
 <<< 788953003 |Hereditary hearing loss (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1821000146108 |Hereditary metabolic disease (disorder)| + 
41799005 |Hereditary retinal dystrophy (disorder)| + 
103276001 |Decreased hearing (finding)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
763325000 |Insulin resistance (disorder)| + 
83469008 |Hyperinsulinism (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
1359763002 |Genetic syndromic childhood obesity (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 4720007 |Dystrophy (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 5665001 |Retinal structure (body structure)| }
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 281302008 |Above reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363808001 |Body weight measure (observable entity)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)| }
        { 363698007 |Finding site (attribute)| = 78696007 |Endocrine pancreatic structure (body structure)| }
        { 246454002 |Occurrence (attribute)| = 255398004 |Childhood (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
803015011 - Alstrom syndrome (disorder) (en) View
803015011	en	Fully specified name (core metadata concept)	Alstrom syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
105880017 - Alstrom syndrome (en) View
105880017	en	Synonym (core metadata concept)	Alstrom syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (9278994023) - 63702009 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374363026) - 63702009 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9279003025) - 63702009 -> 414916001 (116680003) View
116680003 \|Is a (attribute)\|	414916001 \|Obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16331323021) - 63702009 -> 1359763002 (116680003) View
116680003 \|Is a (attribute)\|	1359763002 \|Genetic syndromic childhood obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (16331324026) - 63702009 -> 255398004 (246454002) View
246454002 \|Occurrence (attribute)\|	255398004 \|Childhood (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15880826026) - 63702009 -> 42357009 (116680003) View
116680003 \|Is a (attribute)\|	42357009 \|Disorder of digestive system specific to fetus or newborn (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (251718022) - 63702009 -> 75934005 (116680003) View
116680003 \|Is a (attribute)\|	75934005 \|Metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1679504026) - 63702009 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9278999029) - 63702009 -> 314407005 (116680003) View
116680003 \|Is a (attribute)\|	314407005 \|Retinal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (15281254028) - 63702009 -> 1821000146108 (116680003) View
116680003 \|Is a (attribute)\|	1821000146108 \|Hereditary metabolic disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281255027) - 63702009 -> 41799005 (116680003) View
116680003 \|Is a (attribute)\|	41799005 \|Hereditary retinal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281284020) - 63702009 -> 103276001 (116680003) View
116680003 \|Is a (attribute)\|	103276001 \|Decreased hearing (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281285021) - 63702009 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281286022) - 63702009 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281287029) - 63702009 -> 763325000 (116680003) View
116680003 \|Is a (attribute)\|	763325000 \|Insulin resistance (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281288023) - 63702009 -> 83469008 (116680003) View
116680003 \|Is a (attribute)\|	83469008 \|Hyperinsulinism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281289026) - 63702009 -> 78696007 (363698007) View
363698007 \|Finding site (attribute)\|	78696007 \|Endocrine pancreatic structure (body structure)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15281290024) - 63702009 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9278991026) - 63702009 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13068904028) - 63702009 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12488179026) - 63702009 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9278995024) - 63702009 -> 363808001 (363714003) View
363714003 \|Interprets (attribute)\|	363808001 \|Body weight measure (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9279001028) - 63702009 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9279004020) - 63702009 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9278993028) - 63702009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9278997027) - 63702009 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10533345020) - 63702009 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10533346021) - 63702009 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6017579026) - 63702009 -> 60700002 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017580028) - 63702009 -> 414916001 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	414916001 \|Obesity (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017581029) - 63702009 -> 57653000 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	57653000 \|Multiple organ failure (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6017582020) - 63702009 -> 314407005 (363705008) View
363705008 \|Has definitional manifestation (attribute)\|	314407005 \|Retinal dystrophy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (9278992022) - 63702009 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9278996020) - 63702009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9278998021) - 63702009 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9279000027) - 63702009 -> 4720007 (116676008) View
116676008 \|Associated morphology (attribute)\|	4720007 \|Dystrophy (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (9279002024) - 63702009 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (251721024) - 63702009 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (251722028) - 63702009 -> 95695004 (116680003) View
116680003 \|Is a (attribute)\|	95695004 \|Degeneration of retina (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2695011021) - 63702009 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292949022) - 63702009 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292950022) - 63702009 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981509022) - 63702009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981510028) - 63702009 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4981511029) - 63702009 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832839020) - 63702009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292947024) - 63702009 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3292948025) - 63702009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832838028) - 63702009 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832840022) - 63702009 -> 33359002 (116676008) View
116676008 \|Associated morphology (attribute)\|	33359002 \|Degeneration (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (832841021) - 63702009 -> 5665001 (363698007) View
363698007 \|Finding site (attribute)\|	5665001 \|Retinal structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2599280026) - 63702009 -> 107656002 (116676008) View
116676008 \|Associated morphology (attribute)\|	107656002 \|Congenital anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1679505025) - 63702009 -> 19416009 (116680003) View
116680003 \|Is a (attribute)\|	19416009 \|Congenital anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (1679506029) - 63702009 -> 127329003 (116680003) View
116680003 \|Is a (attribute)\|	127329003 \|Congenital anomaly of visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (251717028) - 63702009 -> 88425004 (116680003) View
116680003 \|Is a (attribute)\|	88425004 \|Congenital anomaly of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (251719025) - 63702009 -> 87290003 (116680003) View
116680003 \|Is a (attribute)\|	87290003 \|Congenital anomaly of head (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (251720020) - 63702009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (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
1359763002 View
1359763002	Genetic syndromic childhood obesity (disorder)	Genetic syndromic childhood obesity	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
1821000146108 View
1821000146108	Hereditary metabolic disease (disorder)	Hereditary metabolic disease	900000000000074008 \|Necessary but not sufficient concept 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
42357009 View
42357009	Disorder of digestive system specific to fetus or newborn (disorder)	Perinatal digestive system disorders	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
763325000 View
763325000	Insulin resistance (disorder)	Insulin resistance	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
41799005 View
41799005	Hereditary retinal dystrophy (disorder)	Hereditary retinal dystrophy	900000000000074008 \|Necessary but not sufficient concept 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
82354003 View
82354003	Multiple system malformation syndrome (disorder)	Multiple system malformation syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
83469008 View
83469008	Hyperinsulinism (disorder)	Hyperinsulinism	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
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
363104002 View
363104002	Hereditary disorder of endocrine system (disorder)	Hereditary disorder of endocrine 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 (8f4f4172-b496-52e7-9bd5-0583c1996e98) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E34.8	TRUE	ALWAYS E34.8 \| 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)\|
ExtendedMap object (9e384b57-38cf-5873-83fb-13777d2d93f4) 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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