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SNOMED CT, US Edition
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/715217004
http://purl.bioontology.org/ontology/SNOMEDCT/715217004
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|---|---|
| Preferred Name | Arthrogryposis with oculomotor limitation and electroretinal anomaly |
| Definitions |
An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal.
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| Synonyms |
Oculomelic amyoplasia
Distal arthrogryposis type 5
Distal arthrogryposis type 5 (disorder)
Distal arthrogryposis with ophthalmoplegia
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | An inherited developmental defect syndrome characterised by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. An inherited developmental defect syndrome characterized by multiple congenital contractures of limbs, without primary neurologic and/or muscle disease that affects limb function, and ocular anomalies (ptosis, external ophthalmoplegia and/or strabismus). Intelligence is normal. |
|---|---|
| altLabel |
Oculomelic amyoplasia
Distal arthrogryposis type 5
Distal arthrogryposis type 5 (disorder)
Distal arthrogryposis with ophthalmoplegia
|
| prefLabel | Arthrogryposis with oculomotor limitation and electroretinal anomaly
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 715217004
|
| Effective time | 20160731
|
| Active | 1
|
| Has finding site | |
| interprets | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| Has interpretation | |
| type | |
| Subset member | 6011000124106~MAPTARGET~H49.00
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q68.8
6011000124106~MAPTARGET~Q74.3
900000000000497000~MAPTARGET~XUtBJ
6011000124106~MAPGROUP~1
6011000124106~MAPGROUP~2
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
6011000124106~MAPADVICE~ALWAYS Q74.3
447562003~MAPADVICE~ALWAYS Q68.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPADVICE~ALWAYS Q14.1
6011000124106~MAPTARGET~Q68.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPTARGET~Q14.1
6011000124106~MAPRULE~TRUE
6011000124106~MAPGROUP~3
447562003~MAPTARGET~Q68.8
6011000124106~MAPADVICE~ALWAYS H49.00 | CONSIDER LATERALITY SPECIFICATION
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
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| CTV3ID | XUtBJ
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| Occurs in | |
| cui | C1862472
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |