Link to this page
SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/768471006
http://purl.bioontology.org/ontology/SNOMEDCT/768471006
|
|---|---|
| Preferred Name | 16p12.2 microdeletion syndrome |
| Definitions |
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioural problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent
|
| Synonyms |
16p12.2 microdeletion
16p12.2 microdeletion syndrome (disorder)
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioural problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent |
|---|---|
| altLabel |
16p12.2 microdeletion
16p12.2 microdeletion syndrome (disorder)
|
| prefLabel | 16p12.2 microdeletion syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| CASE SIGNIFICANCE ID | 900000000000448009
|
| notation | 768471006
|
| Effective time | 20180731
|
| Active | 1
|
| Has finding site | |
| Has pathological process | |
| subClassOf | |
| Semantic type UMLS property | |
| type | |
| Subset member |
447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q93.88
6011000124106~MAPTARGET~Q93.88
6011000124106~MAPGROUP~1
900000000000508004~ACCEPTABILITYID~900000000000549004
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
900000000000497000~MAPTARGET~XV6PX
447562003~MAPPRIORITY~1
447562003~MAPADVICE~ALWAYS Q93.5
447562003~MAPCATEGORYID~447637006
6011000124106~MAPPRIORITY~1
6011000124106~CORRELATIONID~447561005
447562003~MAPTARGET~Q93.5
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
See more
See less
|
| DEFINITION STATUS ID | 900000000000074008
|
| tui | T047
|
| CTV3ID | XV6PX
|
| Occurs in | |
| cui | C4708497
|
| Has associated morphology |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |