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Terminology chevron_right Concepts chevron_right 1260450002

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Component

1260450002

The component that hold information about this concept.

Fully Specified Name (FSN)

Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)

Shortest Term

Infantile multisystem neurologic, endocrine, pancreatic disease

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

Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)

SCTID: 1260450002, Primitive, Active

1260450002|Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)|

en Imnepd - infantile multisystem neurologic, endocrine, pancreatic disease
en Infantile multisystem neurologic, endocrine, pancreatic disease
en Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)

Expression

1260450002 |Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)|
 <<< 103276001 |Decreased hearing (finding)| + 
224958001 |Global developmental delay (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
363080007 |Digestive system hereditary disorder (disorder)| + 
363104002 |Hereditary disorder of endocrine system (disorder)| + 
37992001 |Pancreatic insufficiency (disorder)| + 
60700002 |Sensorineural hearing loss (disorder)| + 
763597000 |Hereditary ataxia (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
1362108000 |Genetic intellectual disability (disorder)| + 
788953003 |Hereditary hearing loss (disorder)| + 
1137472008 |Neurodevelopmental delay (disorder)| : 
        { 363698007 |Finding site (attribute)| = 15776009 |Pancreatic structure (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 25087005 |Structure of nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 91159003 |Structure of auditory system (body structure)|,
246454002 |Occurrence (attribute)| = 3658006 |Infancy (qualifier value)| }
        { 363713009 |Has interpretation (attribute)| = 1250004 |Decreased (qualifier value)|,
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)| }
        { 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
5160534014 - IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease (en) View
5160534014	en	Synonym (core metadata concept)	IMNEPD - infantile multisystem neurologic, endocrine, pancreatic disease	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
5160536011 - Infantile multisystem neurologic, endocrine, pancreatic disease (en) View
5160536011	en	Synonym (core metadata concept)	Infantile multisystem neurologic, endocrine, pancreatic disease	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
5160535010 - Infantile multisystem neurologic, endocrine, pancreatic disease (disorder) (en) View
5160535010	en	Fully specified name (core metadata concept)	Infantile multisystem neurologic, endocrine, pancreatic disease (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16407886026) - 1260450002 -> 1137472008 (116680003) View
116680003 \|Is a (attribute)\|	1137472008 \|Neurodevelopmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476225028) - 1260450002 -> 362991006 (116680003) View
116680003 \|Is a (attribute)\|	362991006 \|Auditory system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16374493020) - 1260450002 -> 788953003 (116680003) View
116680003 \|Is a (attribute)\|	788953003 \|Hereditary hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476221021) - 1260450002 -> 110359009 (116680003) View
116680003 \|Is a (attribute)\|	110359009 \|Intellectual disability\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (16316951026) - 1260450002 -> 1362108000 (116680003) View
116680003 \|Is a (attribute)\|	1362108000 \|Genetic intellectual disability (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476220022) - 1260450002 -> 103276001 (116680003) View
116680003 \|Is a (attribute)\|	103276001 \|Decreased hearing (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476222025) - 1260450002 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476226027) - 1260450002 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476227020) - 1260450002 -> 363080007 (116680003) View
116680003 \|Is a (attribute)\|	363080007 \|Digestive system hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476228026) - 1260450002 -> 363104002 (116680003) View
116680003 \|Is a (attribute)\|	363104002 \|Hereditary disorder of endocrine system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476229023) - 1260450002 -> 37992001 (116680003) View
116680003 \|Is a (attribute)\|	37992001 \|Pancreatic insufficiency (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476230029) - 1260450002 -> 60700002 (116680003) View
116680003 \|Is a (attribute)\|	60700002 \|Sensorineural hearing loss (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476231025) - 1260450002 -> 763597000 (116680003) View
116680003 \|Is a (attribute)\|	763597000 \|Hereditary ataxia (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476232021) - 1260450002 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476233027) - 1260450002 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	8	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476234022) - 1260450002 -> 47078008 (363714003) View
363714003 \|Interprets (attribute)\|	47078008 \|Hearing, function (observable entity)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476235023) - 1260450002 -> 1250004 (363713009) View
363713009 \|Has interpretation (attribute)\|	1250004 \|Decreased (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476236024) - 1260450002 -> 247573007 (363714003) View
363714003 \|Interprets (attribute)\|	247573007 \|Intellectual ability (observable entity)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476237026) - 1260450002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476238020) - 1260450002 -> 406208005 (363714003) View
363714003 \|Interprets (attribute)\|	406208005 \|Adaptation behavior (observable entity)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476239028) - 1260450002 -> 260379002 (363713009) View
363713009 \|Has interpretation (attribute)\|	260379002 \|Impaired (qualifier value)\|	6	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476242023) - 1260450002 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476243029) - 1260450002 -> 15776009 (363698007) View
363698007 \|Finding site (attribute)\|	15776009 \|Pancreatic structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476244024) - 1260450002 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476245020) - 1260450002 -> 25087005 (363698007) View
363698007 \|Finding site (attribute)\|	25087005 \|Structure of nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476246021) - 1260450002 -> 3658006 (246454002) View
246454002 \|Occurrence (attribute)\|	3658006 \|Infancy (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15476247028) - 1260450002 -> 91159003 (363698007) View
363698007 \|Finding site (attribute)\|	91159003 \|Structure of auditory system (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1137472008 View
1137472008	Neurodevelopmental delay (disorder)	Neurodevelopmental delay	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
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
763597000 View
763597000	Hereditary ataxia (disorder)	Hereditary ataxia	900000000000073002 \|Sufficiently defined by necessary conditions 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
37992001 View
37992001	Pancreatic insufficiency (disorder)	Suy tụy	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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
224958001 View
224958001	Global developmental delay (disorder)	Global developmental delay	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 (c0038aea-bb97-567b-9bc4-585d957cc698) 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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