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SNOMED CT, US Edition
| Id | http://purl.bioontology.org/ontology/SNOMEDCT/716862002
http://purl.bioontology.org/ontology/SNOMEDCT/716862002
|
|---|---|
| Preferred Name | Proteus like syndrome |
| Definitions |
A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.
Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group.
Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group.
Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue naevi, vascular malformations and linear epidermal naevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group.
A rare genetic disease characterised by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease.
|
| Synonyms |
Proteus like syndrome (disorder)
Cohen-Hayden syndrome
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | A rare genetic disease characterized by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group. Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomous overgrowth of multiple tissues, cerebriform connective tissue nevi, vascular malformations and linear epidermal nevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN harmatoma syndrome group. Proteus like syndrome describes patients who do not meet the diagnostic criteria for Proteus syndrome but who share a multitude of characteristic clinical features of the disease. The prevalence is unknown. The main clinical features include skeletal overgrowth, hamartomatous overgrowth of multiple tissues, cerebriform connective tissue naevi, vascular malformations and linear epidermal naevi. Mutations in the PTEN gene are found in 50% of Proteus-like syndrome cases, making them a part of the PTEN hamartoma syndrome group. A rare genetic disease characterised by patients presenting with a multitude of clinical features of Proteus syndrome without meeting the diagnostic criteria for the disease. |
|---|---|
| prefLabel | Proteus like syndrome
|
| altLabel |
Proteus like syndrome (disorder)
Cohen-Hayden syndrome
|
| Type ID |
900000000000003001
900000000000013009
|
| Semantic type UMLS property | |
| Has finding site | |
| Effective time | 20160731
|
| cui | C1866398
|
| Has pathological process | |
| CTV3ID | XUtNG
|
| DEFINITION STATUS ID | 900000000000074008
|
| CASE SIGNIFICANCE ID |
900000000000448009
900000000000017005
|
| Occurs in | |
| tui | T047
|
| Active | 1
|
| Has associated morphology | |
| notation | 716862002
|
| type | |
| subClassOf | |
| Subset member | 447562003~MAPRULE~TRUE
6011000124106~MAPADVICE~ALWAYS Q85.8
6011000124106~MAPGROUP~1
6011000124106~MAPADVICE~ALWAYS Q85.81 | CONSIDER ADDITIONAL CODE TO IDENTIFY SPECIFIC CONDITION OR DISEASE
6011000124106~MAPTARGET~Q85.81
900000000000508004~ACCEPTABILITYID~900000000000549004
6011000124106~MAPADVICE~ALWAYS Q85.9
447562003~MAPGROUP~1
447562003~CORRELATIONID~447561005
6011000124106~MAPCATEGORYID~447637006
900000000000509007~ACCEPTABILITYID~900000000000548007
900000000000508004~ACCEPTABILITYID~900000000000548007
447562003~MAPPRIORITY~1
447562003~MAPCATEGORYID~447637006
6011000124106~MAPTARGET~Q85.9
447562003~MAPADVICE~ALWAYS Q87.3
6011000124106~MAPPRIORITY~1
447562003~MAPTARGET~Q87.3
6011000124106~CORRELATIONID~447561005
6011000124106~MAPRULE~TRUE
900000000000509007~ACCEPTABILITYID~900000000000549004
6011000124106~MAPTARGET~Q85.8
900000000000497000~MAPTARGET~XUtNG
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