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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/766816008
http://purl.bioontology.org/ontology/SNOMEDCT/766816008
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|---|---|
| Preferred Name | 2q23.1 microduplication syndrome |
| Definitions |
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.
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| Synonyms |
Trisomy 2q23.1
2q23.1 microduplication syndrome (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. 2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterised by global developmental delay, hypotonia, autistic-like features and behavioural problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. A rare chromosomal anomaly syndrome resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. |
|---|---|
| altLabel |
Trisomy 2q23.1
2q23.1 microduplication syndrome (disorder)
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| prefLabel | 2q23.1 microduplication syndrome
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 766816008
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| Effective time | 20180731
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| Active | 1
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| Has finding site | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member |
447562003~MAPRULE~TRUE
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q92.2
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~Q92.2
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
900000000000497000~MAPTARGET~XV60O
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
447562003~MAPTARGET~Q92.3
900000000000509007~ACCEPTABILITYID~900000000000549004
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XV60O
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| Occurs in | |
| cui | C4707847
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| Has associated morphology |
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