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SNOMED CT
Id | http://purl.bioontology.org/ontology/SNOMEDCT/1260203008
http://purl.bioontology.org/ontology/SNOMEDCT/1260203008
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Preferred Name | EVEN-plus syndrome |
Definitions |
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed.
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed.
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Synonyms |
EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome
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Type | http://www.w3.org/2002/07/owl#Class |
All Properties
definition | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localised aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by epiphyseal and vertebral dysplasia and abnormalities of the external ears (severe microtia or anotia) and the nose (hypoplastic nose with bifid tip, triangular nares or anteverted nares). Additional variable findings include short stature, localized aplasia cutis, hypodontia, synophrys, agenesis of the corpus callosum and cardiac, gastrointestinal and/or urogenital malformations among others. Psychomotor development may be delayed. |
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altLabel | EVEN (epiphyseal, vertebral, ear dysplasia, nose) plus associated findings syndrome
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome (disorder)
Epiphyseal, vertebral, ear dysplasia, nose plus associated findings syndrome
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prefLabel | EVEN-plus syndrome
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Type ID |
900000000000003001
900000000000013009
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CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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notation | 1260203008
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Effective time | 20230131
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Active | 1
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Has finding site | |
Has clinical course | |
Has pathological process | |
subClassOf |
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Semantic type UMLS property | |
type | |
Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
6011000124106~MAPTARGET~Q77.7
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q30.9
900000000000497000~MAPTARGET~XVK3o
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q77.7
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q30.9
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPADVICE~ALWAYS Q17.9
6011000124106~MAPTARGET~Q17.9
447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q87.0
900000000000509007~ACCEPTABILITYID~900000000000549004
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DEFINITION STATUS ID | 900000000000074008
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tui | T047
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CTV3ID | XVK3o
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Occurs in | |
cui | C4225180
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Has associated morphology |
Delete | Subject | Author | Type | Created |
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No notes to display |
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Notes
Subject | Author | Type | Class | Created |
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ICD-10-CM 2018 | Certified+Professional+Coder+ | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/40068008 | 2018-06-08 |
Surgical specialty should be surgury? | jimmccusker | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/394732004 | 2012-09-26 |
SNOMEDCT | kotharu | Comment | http://purl.bioontology.org/ontology/SNOMEDCT/123037004 | 2012-04-17 |
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