716862002: Proteus like syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Mass of body structure\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \General finding of soft tissue\Skin finding (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Integumentary system finding\Disorder of integument\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\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.\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.
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\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.\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.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Integumentary system finding\Skin finding (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\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.\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.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\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.\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.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\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.\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.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\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.\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.
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\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.\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.
• \Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\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.\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.
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of body system\Disorder of integument\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\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.\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.
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\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.\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.
• \Disease\Developmental disorder\Developmental hereditary disorder\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.\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.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\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.\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.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3307823012	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787526019	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
3787527011	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.	en	Definition	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401421013	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401422018	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3307820010	Proteus like syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307821014	Proteus like syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3307822019	Cohen-Hayden syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

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