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Terminology chevron_right Concepts chevron_right 403554008

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Component

403554008

The component that hold information about this concept.

Fully Specified Name (FSN)

Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)

Shortest Term

Delleman-orthuys 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

Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)

SCTID: 403554008, Primitive, Active

403554008|Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)|

en Delleman-oorthuys syndrome
en Oculocerebrocutaneous syndrome
en Oculocerebrocutaneous syndrome (disorder)

Expression

403554008 |Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)|
 <<< 403553002 |Aplasia cutis congenita secondary to malformation syndrome (type 9) (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 45486003 |Aplasia (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 119181002 |Skin part (body structure)|,
246454002 |Occurrence (attribute)| = 255399007 |Congenital (qualifier value)|,
370135005 |Pathological process (attribute)| = 308490002 |Pathological developmental process (qualifier value)| }
        { 47429007 |Associated with (attribute)| = 400038003 |Congenital malformation syndrome (disorder)| }
        

Diagram

Active

Component help	Language Code help	Type	Term help	Case Significance help	Acceptability	Active
2647588016 - Delleman-Oorthuys syndrome (en) View
2647588016	en	Synonym (core metadata concept)	Delleman-Oorthuys syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True
4579831016 - Oculocerebrocutaneous syndrome (en) View
4579831016	en	Synonym (core metadata concept)	Oculocerebrocutaneous syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1782579015 - Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (en) View
1782579015	en	Synonym (core metadata concept)	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
1771480012 - Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder) (en) View
1771480012	en	Fully specified name (core metadata concept)	Oculo-cerebro-cutaneous syndrome (aplasia cutis, skin tags, eye & brain defects) (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	False
4579830015 - Oculocerebrocutaneous syndrome (disorder) (en) View
4579830015	en	Fully specified name (core metadata concept)	Oculocerebrocutaneous syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
1787795014 - Delleman-Orthuys syndrome (en) View
1787795014	en	Synonym (core metadata concept)	Delleman-Orthuys syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	False

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (6030094026) - 403554008 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (13186748029) - 403554008 -> 45486003 (116676008) View
116676008 \|Associated morphology (attribute)\|	45486003 \|Aplasia (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2755486022) - 403554008 -> 400038003 (47429007) View
47429007 \|Associated with (attribute)\|	400038003 \|Congenital malformation syndrome (disorder)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520161021) - 403554008 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (4974633028) - 403554008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (4997399022) - 403554008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (5042206029) - 403554008 -> 88456007 (116676008) View
116676008 \|Associated morphology (attribute)\|	88456007 \|Congenital partial absence (morphologic abnormality)\|	2	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (6030093021) - 403554008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (6030095025) - 403554008 -> 119181002 (363698007) View
363698007 \|Finding site (attribute)\|	119181002 \|Skin part (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (2290326020) - 403554008 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3318971029) - 403554008 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (3318972020) - 403554008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2290327027) - 403554008 -> 24216005 (116676008) View
116676008 \|Associated morphology (attribute)\|	24216005 \|Congenital absence (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2755487029) - 403554008 -> 39937001 (363698007) View
363698007 \|Finding site (attribute)\|	39937001 \|Skin structure (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2290328021) - 403554008 -> 20795001 (363698007) View
363698007 \|Finding site (attribute)\|	20795001 \|Structure of skin region (body structure)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (2250099022) - 403554008 -> 403553002 (116680003) View
116680003 \|Is a (attribute)\|	403553002 \|Aplasia cutis congenita secondary to malformation syndrome (type 9) (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True

Fully Specified Name (FSN)	Shortest Term	Definition Status help	Active
403553002 View
403553002	Aplasia cutis congenita secondary to malformation syndrome (type 9) (disorder)	Aplasia cutis congenita secondary to malformation syndrome (type 9)	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 (f62b51d7-bdf1-5bea-aab2-c3bdf368d957) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.8	TRUE	ALWAYS Q87.8	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)\|

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