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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/719583002
http://purl.bioontology.org/ontology/SNOMEDCT/719583002
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|---|---|
| Preferred Name | 17q11.2 microduplication syndrome |
| Definitions |
Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.
17q11.2 microduplication syndrome is characterised by dysmorphic features and intellectual deficit.
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
|
| Synonyms |
17q11.2 microduplication syndrome (disorder)
Trisomy 17q11.2
Grisart Destree syndrome
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Syndrome that has characteristics of dysmorphic features and intellectual deficit. It has been described in seven patients within one family. 17q11.2 microduplication encompasses the NF1 region. The underlying mechanism may be non-allelic homologous recombination. The study of pedigree suggests that this microduplication segregates within the family for at least two generations. Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance. 17q11.2 microduplication syndrome is characterised by dysmorphic features and intellectual deficit. 17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. |
|---|---|
| prefLabel | 17q11.2 microduplication syndrome
|
| altLabel |
17q11.2 microduplication syndrome (disorder)
Trisomy 17q11.2
Grisart Destree syndrome
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| Has interpretation | |
| Type ID |
900000000000003001
900000000000013009
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| Semantic type UMLS property | |
| Has finding site | |
| interprets | |
| Effective time | 20170131
|
| cui | C3495679
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| Has pathological process | |
| CTV3ID | XUu3M
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| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
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| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 719583002
|
| type | |
| subClassOf | |
| Subset member |
447562003~MAPRULE~TRUE
900000000000497000~MAPTARGET~XUu3M
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPADVICE~ALWAYS Q92.3
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
6011000124106~MAPTARGET~Q92.8
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~Q92.3
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q92.8
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