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Terminology chevron_right Concepts chevron_right 773627004

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Component

773627004

The component that hold information about this concept.

Fully Specified Name (FSN)

Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)

Shortest Term

Porencephaly, microcephaly, bilateral congenital cataract 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

Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)

SCTID: 773627004, Primitive, Active

773627004|Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)|

en Porencephaly, microcephaly, bilateral congenital cataract syndrome
en Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)

Expression

773627004 |Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)|
 <<< 363070008 |Developmental hereditary disorder (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
363235000 |Hereditary disorder of nervous system (disorder)| + 
346721000119108 |Congenital cataract of bilateral eyes (disorder)| + 
38353004 |Congenital porencephaly (disorder)| + 
82354003 |Multiple system malformation syndrome (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 125269003 |Cystic dilatation (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 12738006 |Brain structure (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 72345007 |Structure of lens of right eye (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 116676008 |Associated morphology (attribute)| = 128305008 |Abnormally opaque structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 88258005 |Structure of lens of left eye (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
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
3724875011 - Porencephaly, microcephaly, bilateral congenital cataract syndrome (en) View
3724875011	en	Synonym (core metadata concept)	Porencephaly, microcephaly, bilateral congenital cataract syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3724874010 - Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) (en) View
3724874010	en	Fully specified name (core metadata concept)	Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069999021) - 773627004 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618601022) - 773627004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10618602026) - 773627004 -> 55661009 (116676008) View
116676008 \|Associated morphology (attribute)\|	55661009 \|Congenital cavitation (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10618603020) - 773627004 -> 88258005 (363698007) View
363698007 \|Finding site (attribute)\|	88258005 \|Structure of lens of left eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10618614023) - 773627004 -> 72345007 (363698007) View
363698007 \|Finding site (attribute)\|	72345007 \|Structure of lens of right eye (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10750610027) - 773627004 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10750611028) - 773627004 -> 128306009 (116676008) View
116676008 \|Associated morphology (attribute)\|	128306009 \|Cataract (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (11345402026) - 773627004 -> 88258005 (363698007) View
363698007 \|Finding site (attribute)\|	88258005 \|Structure of lens of left eye (body structure)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11345404025) - 773627004 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569607020) - 773627004 -> 125269003 (116676008) View
116676008 \|Associated morphology (attribute)\|	125269003 \|Cystic dilatation (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569608026) - 773627004 -> 128305008 (116676008) View
116676008 \|Associated morphology (attribute)\|	128305008 \|Abnormally opaque structure (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569609023) - 773627004 -> 12738006 (363698007) View
363698007 \|Finding site (attribute)\|	12738006 \|Brain structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (11569610029) - 773627004 -> 72345007 (363698007) View
363698007 \|Finding site (attribute)\|	72345007 \|Structure of lens of right eye (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618599020) - 773627004 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618600023) - 773627004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618604025) - 773627004 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618605029) - 773627004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618606028) - 773627004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618607021) - 773627004 -> 363235000 (116680003) View
116680003 \|Is a (attribute)\|	363235000 \|Hereditary disorder of nervous system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618608027) - 773627004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618609024) - 773627004 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	3	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618611026) - 773627004 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618613028) - 773627004 -> 346721000119108 (116680003) View
116680003 \|Is a (attribute)\|	346721000119108 \|Congenital cataract of bilateral eyes (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618615024) - 773627004 -> 38353004 (116680003) View
116680003 \|Is a (attribute)\|	38353004 \|Congenital porencephaly (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10618616020) - 773627004 -> 82354003 (116680003) View
116680003 \|Is a (attribute)\|	82354003 \|Multiple system malformation syndrome (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
363070008 View
363070008	Developmental hereditary disorder (disorder)	Developmental hereditary disorder	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
346721000119108 View
346721000119108	Congenital cataract of bilateral eyes (disorder)	Congenital cataract of both eyes	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
38353004 View
38353004	Congenital porencephaly (disorder)	Schizencephaly	900000000000074008 \|Necessary but not sufficient concept 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
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
363343008 View
363343008	Hereditary disorder of the visual system (disorder)	Hereditary disorder of the visual 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 (2d5e50d7-d967-5159-83c0-c67f8596f287) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q04.6	TRUE	ALWAYS Q04.6	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 (910e2df7-0079-55f1-a920-134dbf146e6a) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q12.0	TRUE	ALWAYS Q12.0	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)\|
ExtendedMap object (98021c40-8fb9-5cfb-bb9a-e8299e4de75f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q07.8	TRUE	ALWAYS Q07.8 \| 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)\|
ExtendedMap object (fddb482c-585a-539c-b772-fb15f4f224b3) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q02	TRUE	ALWAYS Q02	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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