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Terminology chevron_right Concepts chevron_right 733071009

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Component

733071009

The component that hold information about this concept.

Fully Specified Name (FSN)

Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)

Shortest Term

Groll hirschowitz 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, small bowel diverticulosis, neuropathy syndrome (disorder)

SCTID: 733071009, Primitive, Active

733071009|Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)|

en Deafness, small bowel diverticulosis, neuropathy syndrome
en Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)
en Groll hirschowitz syndrome

Expression

733071009 |Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)|
 <<< 11442006 |Hereditary sensory neuropathy (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
119292006 |Disorder of gastrointestinal tract (disorder)| + 
232333009 |Hearing loss associated with syndrome (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
700453005 |Congenital sensorineural hearing loss (disorder)| + 
789588003 |Peripheral sensory neuropathy (disorder)| + 
25906001 |Disorder of ear (disorder)| + 
42357009 |Disorder of digestive system specific to fetus or newborn (disorder)| + 
788953003 |Hereditary hearing loss (disorder)|
        { 363714003 |Interprets (attribute)| = 47078008 |Hearing, function (observable entity)| }
        { 363698007 |Finding site (attribute)| = 117590005 |Ear structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 84782009 |Peripheral nerve structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 122865005 |Gastrointestinal tract structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3498676019 - Deafness, small bowel diverticulosis, neuropathy syndrome (en) View
3498676019	en	Synonym (core metadata concept)	Deafness, small bowel diverticulosis, neuropathy syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498675015 - Deafness, small bowel diverticulosis, neuropathy syndrome (disorder) (en) View
3498675015	en	Fully specified name (core metadata concept)	Deafness, small bowel diverticulosis, neuropathy syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3498677011 - Groll Hirschowitz syndrome (en) View
3498677011	en	Synonym (core metadata concept)	Groll Hirschowitz syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (7044186026) - 733071009 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374458029) - 733071009 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15880920020) - 733071009 -> 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 (7044185027) - 733071009 -> 302226006 (116680003) View
116680003 \|Is a (attribute)\|	302226006 \|Peripheral nerve disease (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (12092410024) - 733071009 -> 789588003 (116680003) View
116680003 \|Is a (attribute)\|	789588003 \|Peripheral sensory neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (12092411023) - 733071009 -> 25906001 (116680003) View
116680003 \|Is a (attribute)\|	25906001 \|Disorder of ear (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044180021) - 733071009 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044182029) - 733071009 -> 95827002 (116680003) View
116680003 \|Is a (attribute)\|	95827002 \|Congenital hearing disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044188025) - 733071009 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11306215029) - 733071009 -> 700453005 (116680003) View
116680003 \|Is a (attribute)\|	700453005 \|Congenital sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044189022) - 733071009 -> 364644000 (363714003) View
363714003 \|Interprets (attribute)\|	364644000 \|Functional observable (observable entity)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (7044179023) - 733071009 -> 11442006 (116680003) View
116680003 \|Is a (attribute)\|	11442006 \|Hereditary sensory neuropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044181020) - 733071009 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044183023) - 733071009 -> 119292006 (116680003) View
116680003 \|Is a (attribute)\|	119292006 \|Disorder of gastrointestinal tract (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044184028) - 733071009 -> 232333009 (116680003) View
116680003 \|Is a (attribute)\|	232333009 \|Hearing loss associated with syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044187024) - 733071009 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044190029) - 733071009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044192021) - 733071009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044194022) - 733071009 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7044195023) - 733071009 -> 122865005 (363698007) View
363698007 \|Finding site (attribute)\|	122865005 \|Gastrointestinal tract structure (body structure)\|	7	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7061049020) - 733071009 -> 117590005 (363698007) View
363698007 \|Finding site (attribute)\|	117590005 \|Ear structure (body structure)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (7061050020) - 733071009 -> 84782009 (363698007) View
363698007 \|Finding site (attribute)\|	84782009 \|Peripheral nerve structure (body structure)\|	6	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
789588003 View
789588003	Peripheral sensory neuropathy (disorder)	Peripheral sensory neuropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
700453005 View
700453005	Congenital sensorineural hearing loss (disorder)	Congenital sensorineural deafness	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
11442006 View
11442006	Hereditary sensory neuropathy (disorder)	Hereditary sensory neuropathy	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
25906001 View
25906001	Disorder of ear (disorder)	Disorder of ear	900000000000073002 \|Sufficiently defined by necessary conditions 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
119292006 View
119292006	Disorder of gastrointestinal tract (disorder)	Disease of gastrointestinal tract	900000000000073002 \|Sufficiently defined by necessary conditions 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
363080007 View
363080007	Digestive system hereditary disorder (disorder)	Digestive system hereditary disorder	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 (0a90d519-7b2c-52cc-8ce0-a9ae83498fc8) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G60.8	TRUE	ALWAYS G60.8	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 (35fcfd30-aa11-58f5-bc90-a9cb75954968) 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 (e82a5810-abb3-580a-8739-17ed42485792) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	H90.5	TRUE	ALWAYS H90.5	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 (ea2d557e-2fae-5239-9bf4-0a8ad9e61aee) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G60.8	TRUE	ALWAYS G60.8 \| 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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