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Terminology chevron_right Concepts chevron_right 37183000

Production

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Component

37183000

The component that hold information about this concept.

Fully Specified Name (FSN)

Cystinuria, type 1 (disorder)

Shortest Term

Cystinuria, type 1

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

Cystinuria, type 1 (disorder)

SCTID: 37183000, Primitive, Active

37183000|Cystinuria, type 1 (disorder)|

en Cystinuria, type 1
en Cystinuria, type 1 (disorder)
en Recessive cystinuria

Expression

37183000 |Cystinuria, type 1 (disorder)|
 <<< 85020001 |Cystinuria (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
363212003 |Hereditary disorder of musculoskeletal system (disorder)| + 
398152000 |Poor muscle tone (finding)| + 
75047002 |Disorder of skeletal muscle (disorder)| : 
        { 363698007 |Finding site (attribute)| = 127954009 |Skeletal muscle structure (body structure)| }
        { 363698007 |Finding site (attribute)| = 64033007 |Kidney structure (body structure)| }
        { 363713009 |Has interpretation (attribute)| = 371880002 |Abnormally low (qualifier value)|,
363714003 |Interprets (attribute)| = 6918002 |Muscle tone (observable entity)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
62033012 - Cystinuria, type 1 (en) View
62033012	en	Synonym (core metadata concept)	Cystinuria, type 1	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
769020013 - Cystinuria, type 1 (disorder) (en) View
769020013	en	Fully specified name (core metadata concept)	Cystinuria, type 1 (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
62034018 - Recessive cystinuria (en) View
62034018	en	Synonym (core metadata concept)	Recessive cystinuria	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16405760026) - 37183000 -> 371880002 (363713009) View
363713009 \|Has interpretation (attribute)\|	371880002 \|Abnormally low (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (764825028) - 37183000 -> 64033007 (363698007) View
363698007 \|Finding site (attribute)\|	64033007 \|Kidney structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723412027) - 37183000 -> 127954009 (363698007) View
363698007 \|Finding site (attribute)\|	127954009 \|Skeletal muscle structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723416029) - 37183000 -> 6918002 (363714003) View
363714003 \|Interprets (attribute)\|	6918002 \|Muscle tone (observable entity)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723411023) - 37183000 -> 75047002 (116680003) View
116680003 \|Is a (attribute)\|	75047002 \|Disorder of skeletal muscle (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723413021) - 37183000 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723414026) - 37183000 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723415025) - 37183000 -> 363212003 (116680003) View
116680003 \|Is a (attribute)\|	363212003 \|Hereditary disorder of musculoskeletal system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10723417022) - 37183000 -> 398152000 (116680003) View
116680003 \|Is a (attribute)\|	398152000 \|Poor muscle tone (finding)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (764826027) - 37183000 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (208447027) - 37183000 -> 85020001 (116680003) View
116680003 \|Is a (attribute)\|	85020001 \|Cystinuria (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
398152000 View
398152000	Poor muscle tone (finding)	Hypotonia	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
367591000119105 View
367591000119105	Hereditary nephropathy (disorder)	Hereditary nephropathy	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
75047002 View
75047002	Disorder of skeletal muscle (disorder)	Disorder of muscle	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
85020001 View
85020001	Cystinuria (disorder)	Cystinuria	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
363212003 View
363212003	Hereditary disorder of musculoskeletal system (disorder)	Hereditary disorder of musculoskeletal system	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
778025006 View
778025006	Atypical hypotonia cystinuria syndrome (disorder)	Atypical hypotonia cystinuria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
719652007 View
719652007	2p21 microdeletion syndrome (disorder)	Monosomy 2p21	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
721173005 View
721173005	Hypotonia cystinuria syndrome (disorder)	Hypotonia cystinuria syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True

Reference Set help	Map Target help	Map Rule help	Map Advice help	Correlation help	Map Category help
ExtendedMap object (1e57a0eb-28f5-5842-bdd3-139fa84e1346) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	N25.8	TRUE	ALWAYS N25.8	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 (5553799b-772e-54b3-870e-521dc14ccf2e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	E72.0	TRUE	ALWAYS E72.0	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)\|

Terminology chevron_right Concepts chevron_right 37183000

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