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Terminology chevron_right Concepts chevron_right 1208747005

Production

Language with ID “0b505ef0-e891-5076-9fb6-e7ee0ce83997” doesn’t exist. Perhaps it was deleted?

Component

1208747005

The component that hold information about this concept.

Fully Specified Name (FSN)

Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)

Shortest Term

Martsolf-like 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

Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)

SCTID: 1208747005, Primitive, Active

1208747005|Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)|

en Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement
en Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)
en Itpa-related lethal infantile neurological disorder with cataract and cardiac involvement
en Martsolf-like syndrome

Expression

1208747005 |Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)|
 <<< 1148757008 |Microcephaly (finding)| + 
128190004 |Inherited metabolic disorder of nervous system (disorder)| + 
128289001 |Chronic metabolic disorder (disorder)| + 
128613002 |Seizure disorder (disorder)| + 
224958001 |Global developmental delay (disorder)| + 
32612005 |Disorder of purine metabolism (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
78689005 |Chronic brain syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| : 
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 363812007 |Head circumference (observable entity)| }
        { 246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)| }
        { 263502005 |Clinical course (attribute)| = 255314001 |Progressive (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 12738006 |Brain 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
4970756012 - Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (en) View
4970756012	en	Synonym (core metadata concept)	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
4970759017 - Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) (en) View
4970759017	en	Fully specified name (core metadata concept)	Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
4970757015 - ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement (en) View
4970757015	en	Synonym (core metadata concept)	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
4970758013 - Martsolf-like syndrome (en) View
4970758013	en	Synonym (core metadata concept)	Martsolf-like syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (15100237029) - 1208747005 -> 1148757008 (116680003) View
116680003 \|Is a (attribute)\|	1148757008 \|Microcephaly (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100238023) - 1208747005 -> 128190004 (116680003) View
116680003 \|Is a (attribute)\|	128190004 \|Inherited metabolic disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100239026) - 1208747005 -> 128289001 (116680003) View
116680003 \|Is a (attribute)\|	128289001 \|Chronic metabolic disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100240029) - 1208747005 -> 128613002 (116680003) View
116680003 \|Is a (attribute)\|	128613002 \|Seizure disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100241025) - 1208747005 -> 224958001 (116680003) View
116680003 \|Is a (attribute)\|	224958001 \|Global developmental delay (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100242021) - 1208747005 -> 32612005 (116680003) View
116680003 \|Is a (attribute)\|	32612005 \|Disorder of purine metabolism (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100243027) - 1208747005 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100244022) - 1208747005 -> 78689005 (116680003) View
116680003 \|Is a (attribute)\|	78689005 \|Chronic brain syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100245023) - 1208747005 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100246024) - 1208747005 -> 255314001 (263502005) View
263502005 \|Clinical course (attribute)\|	255314001 \|Progressive (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100247026) - 1208747005 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100248020) - 1208747005 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100249028) - 1208747005 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	5	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100250028) - 1208747005 -> 363812007 (363714003) View
363714003 \|Interprets (attribute)\|	363812007 \|Head circumference (observable entity)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (15100251029) - 1208747005 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
128190004 View
128190004	Inherited metabolic disorder of nervous system (disorder)	Inherited metabolic disorder of nervous system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
1148757008 View
1148757008	Microcephaly (finding)	Microcephaly	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
128613002 View
128613002	Seizure disorder (disorder)	Bệnh co giật	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
32612005 View
32612005	Disorder of purine metabolism (disorder)	Disorder of purine metabolism	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
78689005 View
78689005	Chronic brain syndrome (disorder)	Chronic brain syndrome	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
128289001 View
128289001	Chronic metabolic disorder (disorder)	Chronic metabolic disease	900000000000073002 \|Sufficiently defined by necessary conditions 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

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 (10e305d6-49d2-558c-9293-65a5f4ef3916) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	G40.4	TRUE	ALWAYS G40.4 \| 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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