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Terminology chevron_right Concepts chevron_right 721297008

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Component

721297008

The component that hold information about this concept.

Fully Specified Name (FSN)

Galloway mowat syndrome (disorder)

Shortest Term

Galloway 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

Galloway mowat syndrome (disorder)

SCTID: 721297008, Primitive, Active

721297008|Galloway mowat syndrome (disorder)|

en Microcephaly, hiatus hernia, nephrotic syndrome
en Nephrosis, neuronal dysmigration syndrome
en Galloway mowat syndrome
en Galloway mowat syndrome (disorder)
en Galloway syndrome

Expression

721297008 |Galloway mowat syndrome (disorder)|
 <<< 82354003 |Multiple system malformation syndrome (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
236381000 |Steroid-resistant nephrotic syndrome (disorder)| + 
253146009 |Disorder of neuronal migration and differentiation (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
367591000119105 |Hereditary nephropathy (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| + 
1367653005 |Genetic disease of glomerulus (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 21483005 |Structure of central nervous system (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 363698007 |Finding site (attribute)| = 68288006 |Glomerulus structure (body structure)|,
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)| = 57378007 |Measurement of protein in urine (procedure)| }
        { 363713009 |Has interpretation (attribute)| = 281300000 |Below reference range (qualifier value)|,
363714003 |Interprets (attribute)| = 26758005 |Albumin measurement (procedure)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
3326232019 - Microcephaly, hiatus hernia, nephrotic syndrome (en) View
3326232019	en	Synonym (core metadata concept)	Microcephaly, hiatus hernia, nephrotic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3332175012 - Nephrosis, neuronal dysmigration syndrome (en) View
3332175012	en	Synonym (core metadata concept)	Nephrosis, neuronal dysmigration syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3326230010 - Galloway Mowat syndrome (en) View
3326230010	en	Synonym (core metadata concept)	Galloway Mowat syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3326229017 - Galloway Mowat syndrome (disorder) (en) View
3326229017	en	Fully specified name (core metadata concept)	Galloway Mowat syndrome (disorder)	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Preferred	True
3326231014 - Galloway syndrome (en) View
3326231014	en	Synonym (core metadata concept)	Galloway syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (16374927020) - 721297008 -> 1367653005 (116680003) View
116680003 \|Is a (attribute)\|	1367653005 \|Genetic disease of glomerulus (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (13069322026) - 721297008 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791025021) - 721297008 -> 48796009 (116680003) View
116680003 \|Is a (attribute)\|	48796009 \|Congenital nephrotic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791031024) - 721297008 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791033022) - 721297008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791034027) - 721297008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6791035026) - 721297008 -> 68288006 (363698007) View
363698007 \|Finding site (attribute)\|	68288006 \|Glomerulus structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6797774021) - 721297008 -> 68288006 (363698007) View
363698007 \|Finding site (attribute)\|	68288006 \|Glomerulus structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531338026) - 721297008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531340020) - 721297008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10531341024) - 721297008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539690027) - 721297008 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10539691028) - 721297008 -> 21483005 (363698007) View
363698007 \|Finding site (attribute)\|	21483005 \|Structure of central nervous system (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10549298025) - 721297008 -> 367591000119105 (116680003) View
116680003 \|Is a (attribute)\|	367591000119105 \|Hereditary nephropathy (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102288022) - 721297008 -> 26758005 (363714003) View
363714003 \|Interprets (attribute)\|	26758005 \|Albumin measurement (procedure)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102289025) - 721297008 -> 281300000 (363713009) View
363713009 \|Has interpretation (attribute)\|	281300000 \|Below reference range (qualifier value)\|	4	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102290023) - 721297008 -> 57378007 (363714003) View
363714003 \|Interprets (attribute)\|	57378007 \|Measurement of protein in urine (procedure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11102291022) - 721297008 -> 281302008 (363713009) View
363713009 \|Has interpretation (attribute)\|	281302008 \|Above reference range (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791026022) - 721297008 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791027029) - 721297008 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791028023) - 721297008 -> 236381000 (116680003) View
116680003 \|Is a (attribute)\|	236381000 \|Steroid-resistant nephrotic syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791029026) - 721297008 -> 253146009 (116680003) View
116680003 \|Is a (attribute)\|	253146009 \|Disorder of neuronal migration and differentiation (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791030020) - 721297008 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6791032028) - 721297008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
1367653005 View
1367653005	Genetic disease of glomerulus (disorder)	Genetic disease of glomerulus	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
367591000119105 View
367591000119105	Hereditary nephropathy (disorder)	Hereditary nephropathy	900000000000073002 \|Sufficiently defined by necessary conditions 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
85995004 View
85995004	Autosomal recessive hereditary disorder (disorder)	Hereditary disorder trait, nos	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
236381000 View
236381000	Steroid-resistant nephrotic syndrome (disorder)	Steroid-resistant nephrotic syndrome	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
253146009 View
253146009	Disorder of neuronal migration and differentiation (disorder)	Disorder of neuronal migration and differentiation	900000000000074008 \|Necessary but not sufficient concept definition status (core metadata concept)\|	True
363235000 View
363235000	Hereditary disorder of nervous system (disorder)	Hereditary disorder of nervous 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 (1244a46a-db5c-52dd-94f9-6365c4c00c8b) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	N04.9	TRUE	ALWAYS N04.9 \| 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 (62da6542-c388-5d6c-b020-2e694590078e) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.3	TRUE	ALWAYS Q04.3 \| 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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