loading...| Preferred Name |
PTEN hamartoma tumor syndrome |
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| Synonyms |
PTEN hamartoma tumour syndrome PTEN hamartoma tumor syndrome (disorder) |
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| Definitions |
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. |
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| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/722859001 |
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| Active |
1 |
|
| altLabel |
PTEN hamartoma tumour syndrome PTEN hamartoma tumor syndrome (disorder) |
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| CASE SIGNIFICANCE ID |
900000000000017005 |
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| CTV3ID |
XUuwb |
|
| cui |
C1959582 |
|
| definition |
A term defining a group of clinically heterogeneous disorders united by a germline PTEN mutation and the involvement of derivatives of all 3 germ cell layers, manifesting with hamartomas, overgrowth and neoplasia. Disease onset depends on the specific disorder. The most important component seen in this group are malignancies. |
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| DEFINITION STATUS ID |
900000000000074008 |
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| Effective time |
20170131 |
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| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
722859001 |
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| Occurs in | ||
| prefLabel |
PTEN hamartoma tumor syndrome |
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| Subset member |
6011000124106~MAPTARGET~E88.2 447562003~MAPADVICE~ALWAYS Q85.8 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 447562003~MAPRULE~TRUE 6011000124106~MAPADVICE~IF BANNAYAN SYNDROME CHOOSE E71.440 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF BANNAYAN SYNDROME CHOOSE Q75.3 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~MAP SOURCE CONCEPT CANNOT BE CLASSIFIED WITH AVAILABLE DATA 6011000124106~MAPADVICE~ALWAYS Q85.8 6011000124106~MAPTARGET~ 6011000124106~MAPCATEGORYID~447638001 6011000124106~MAPGROUP~1 6011000124106~MAPGROUP~2 6011000124106~MAPADVICE~ALWAYS Q85.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE 6011000124106~MAPTARGET~Q85.81 6011000124106~MAPADVICE~IF SEGMENTAL OUTGROWTH, LIPOMATOSIS, ARTERIOVENOUS MALFORMATION, EPIDERMAL NEVUS SYNDROME CHOOSE D22.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF PROTEUS LIKE SYNDROME CHOOSE Q85.9 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q89.8 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 6011000124106~MAPADVICE~IF SEGMENTAL OUTGROWTH, LIPOMATOSIS, ARTERIOVENOUS MALFORMATION, EPIDERMAL NEVUS SYNDROME CHOOSE E88.2 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 763867001 | Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome | 900000000000508004~ACCEPTABILITYID~900000000000548007 6011000124106~MAPTARGET~E71.440 6011000124106~MAPTARGET~D22.9 447562003~MAPPRIORITY~1 447562003~MAPCATEGORYID~447637006 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106~MAPTARGET~Q75.3 6011000124106~MAPGROUP~4 6011000124106~MAPTARGET~Q85.9 6011000124106~MAPCATEGORYID~447639009 6011000124106~MAPRULE~IFA 234138005 | Bannayan syndrome | 6011000124106~MAPADVICE~IF SEGMENTAL OUTGROWTH, LIPOMATOSIS, ARTERIOVENOUS MALFORMATION, EPIDERMAL NEVUS SYNDROME CHOOSE Q89.8 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPRULE~IFA 716862002 | Proteus like syndrome | 6011000124106~MAPADVICE~IF SEGMENTAL OUTGROWTH, LIPOMATOSIS, ARTERIOVENOUS MALFORMATION, EPIDERMAL NEVUS SYNDROME CHOOSE Q27.30 | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 900000000000497000~MAPTARGET~XUuwb 6011000124106~MAPRULE~TRUE 6011000124106~MAPGROUP~3 6011000124106~MAPPRIORITY~3 6011000124106~MAPTARGET~Q85.8 6011000124106~MAPPRIORITY~2 447562003~MAPTARGET~Q85.8 6011000124106~MAPTARGET~Q27.30 |
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| tui |
T047 |
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| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/699346009 http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/48637007 |