dock_to_right dock_to_right arrow_back

Terminology chevron_right Concepts chevron_right 703403003

Production

add

Component

703403003

The component that hold information about this concept.

Fully Specified Name (FSN)

Ophthalmo-acromelic syndrome (disorder)

Shortest Term

Anophthalmia-syndactyly

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

Ophthalmo-acromelic syndrome (disorder)

SCTID: 703403003, Primitive, Active

703403003|Ophthalmo-acromelic syndrome (disorder)|

en Anophthalmia-syndactyly
en Anophthalmos-limb anomalies syndrome
en Anophthalmos with limb anomalies
en Microphthalmia with limb anomalies
en Ophthalmo-acromelic syndrome
en Ophthalmoacromelic syndrome
en Ophthalmo-acromelic syndrome (disorder)
en Syndactyly-anophthalmos syndrome
en Anophthalmia-waardenburg syndrome
en Waardenburg anophthalmia syndrome

Expression

703403003 |Ophthalmo-acromelic syndrome (disorder)|
 <<< 19416009 |Congenital anomaly of eye (disorder)| + 
363343008 |Hereditary disorder of the visual system (disorder)| + 
85995004 |Autosomal recessive hereditary disorder (disorder)| + 
41443008 |Multiple malformation syndrome with limb defect as major feature (disorder)| + 
363070008 |Developmental hereditary disorder (disorder)| : 
        { 116676008 |Associated morphology (attribute)| = 49755003 |Morphologically abnormal structure (morphologic abnormality)|,
363698007 |Finding site (attribute)| = 81745001 |Structure of eye proper (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
3008370019 - Anophthalmia-syndactyly (en) View
3008370019	en	Synonym (core metadata concept)	Anophthalmia-syndactyly	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008494018 - Anophthalmos-limb anomalies syndrome (en) View
3008494018	en	Synonym (core metadata concept)	Anophthalmos-limb anomalies syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008368011 - Anophthalmos with limb anomalies (en) View
3008368011	en	Synonym (core metadata concept)	Anophthalmos with limb anomalies	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008470018 - Microphthalmia with limb anomalies (en) View
3008470018	en	Synonym (core metadata concept)	Microphthalmia with limb anomalies	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008543010 - Ophthalmo-acromelic syndrome (en) View
3008543010	en	Synonym (core metadata concept)	Ophthalmo-acromelic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3008391010 - Ophthalmoacromelic syndrome (en) View
3008391010	en	Synonym (core metadata concept)	Ophthalmoacromelic syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008429015 - Ophthalmo-acromelic syndrome (disorder) (en) View
3008429015	en	Fully specified name (core metadata concept)	Ophthalmo-acromelic syndrome (disorder)	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Preferred	True
3008373017 - Syndactyly-anophthalmos syndrome (en) View
3008373017	en	Synonym (core metadata concept)	Syndactyly-anophthalmos syndrome	900000000000448009 \|Entire term case insensitive (core metadata concept)\|	Acceptable	True
3008401018 - Anophthalmia-Waardenburg syndrome (en) View
3008401018	en	Synonym (core metadata concept)	Anophthalmia-Waardenburg syndrome	900000000000020002 \|Only initial character case insensitive (core metadata concept)\|	Acceptable	True
3008436019 - Waardenburg anophthalmia syndrome (en) View
3008436019	en	Synonym (core metadata concept)	Waardenburg anophthalmia syndrome	900000000000017005 \|Entire term case sensitive (core metadata concept)\|	Acceptable	True

Type help	Destination help	Relationship group help	Characteristic type help	Active
Relationship (13069826024) - 703403003 -> 363070008 (116680003) View
116680003 \|Is a (attribute)\|	363070008 \|Developmental hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041424028) - 703403003 -> 21390004 (116676008) View
116676008 \|Associated morphology (attribute)\|	21390004 \|Developmental anomaly (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	False
Relationship (10520001022) - 703403003 -> 308490002 (370135005) View
370135005 \|Pathological process (attribute)\|	308490002 \|Pathological developmental process (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (10520002026) - 703403003 -> 49755003 (116676008) View
116676008 \|Associated morphology (attribute)\|	49755003 \|Morphologically abnormal structure (morphologic abnormality)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041419026) - 703403003 -> 19416009 (116680003) View
116680003 \|Is a (attribute)\|	19416009 \|Congenital anomaly of eye (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041420021) - 703403003 -> 363343008 (116680003) View
116680003 \|Is a (attribute)\|	363343008 \|Hereditary disorder of the visual system (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041421020) - 703403003 -> 85995004 (116680003) View
116680003 \|Is a (attribute)\|	85995004 \|Autosomal recessive hereditary disorder (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041422029) - 703403003 -> 41443008 (116680003) View
116680003 \|Is a (attribute)\|	41443008 \|Multiple malformation syndrome with limb defect as major feature (disorder)\|	0	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041423023) - 703403003 -> 255399007 (246454002) View
246454002 \|Occurrence (attribute)\|	255399007 \|Congenital (qualifier value)\|	1	900000000000011006 \|Inferred relationship (core metadata concept)\|	True
Relationship (5041425027) - 703403003 -> 81745001 (363698007) View
363698007 \|Finding site (attribute)\|	81745001 \|Structure of eye proper (body structure)\|	1	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
19416009 View
19416009	Congenital anomaly of eye (disorder)	Dị tật bẩm sinh của mắt	900000000000073002 \|Sufficiently defined by necessary conditions definition status (core metadata concept)\|	True
41443008 View
41443008	Multiple malformation syndrome with limb defect as major feature (disorder)	Multiple malformation syndrome with limb defect as major feature	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
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 (03df94df-9198-512b-95bf-ff107fef063f) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q11.2	TRUE	ALWAYS Q11.2	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 (5bdff53b-de7f-5fd6-8731-b390ce34ea75) View
447562003 \|Icd-10 complex map reference set (foundation metadata concept)\|	Q87.2	TRUE	ALWAYS Q87.2	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 703403003

Descriptions

Relationships

Parent Concepts

Children Concepts

Extended Maps

Recent searches