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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/719686003
http://purl.bioontology.org/ontology/SNOMEDCT/719686003
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|---|---|
| Preferred Name | Distal monosomy 10p |
| Definitions |
Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13.
A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation.
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| Synonyms |
Telomeric deletion 10p
Distal 10p deletion
Distal monosomy 10p (disorder)
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | Distal monosomy 10p is a rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. A rare chromosomal disorder in which the tip of the short arm (p arm) of chromosome 10 is deleted resulting in a variable phenotype depending on the size of the deletion. The deletion may involve only the terminal 10p15 band, or extend towards the centromere to bands 10p14 or 10p13. Around 50 cases of pure distal monosomy 10p have been reported. The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports of ventricular septal defect, hydrocephalus and hypogenitalia. Distal monosomy 10p generally occurs de novo or may be associated with a parental translocation. |
|---|---|
| altLabel |
Telomeric deletion 10p
Distal 10p deletion
Distal monosomy 10p (disorder)
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| prefLabel | Distal monosomy 10p
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| Type ID |
900000000000003001
900000000000013009
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| CASE SIGNIFICANCE ID | 900000000000448009
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| notation | 719686003
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| Effective time | 20170131
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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~MAPTARGET~Q93.59
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q93.5
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS Q93.5
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q93.5
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPTARGET~Q93.5
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q93.59
900000000000497000~MAPTARGET~XUu36
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| DEFINITION STATUS ID | 900000000000074008
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| tui | T047
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| CTV3ID | XUu36
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| Occurs in | |
| cui | C4304502
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| Has associated morphology |
| Delete | Subject | Author | Type | Created |
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| No notes to display |