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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/715216008
http://purl.bioontology.org/ontology/SNOMEDCT/715216008
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|---|---|
| Preferred Name | Sheldon-Hall syndrome |
| Definitions |
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterised by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate.
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| Synonyms |
Freeman-Sheldon syndrome variant
Distal arthrogryposis type 2B
Distal arthrogryposis type 2B (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Rare multiple congenital contracture syndrome characterised by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Rare multiple congenital contracture syndrome characterized by contractures of distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. Sheldon-Hall syndrome (SHS) is a rare multiple congenital contracture syndrome characterised by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. |
|---|---|
| prefLabel | Sheldon-Hall syndrome
|
| altLabel |
Freeman-Sheldon syndrome variant
Distal arthrogryposis type 2B
Distal arthrogryposis type 2B (disorder)
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20160731
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| cui | C1834523
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| Has pathological process | |
| CTV3ID | XUtBG
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| DEFINITION STATUS ID | 900000000000074008
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| CASE SIGNIFICANCE ID |
900000000000020002
900000000000017005
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| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 715216008
|
| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q68.8
6011000124106~MAPTARGET~Q74.3
900000000000497000~MAPTARGET~XUtBG
6011000124106~MAPGROUP~1
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~MAPTARGET~Q68.8
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~Q68.8
900000000000509007~ACCEPTABILITYID~900000000000549004
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