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\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)

\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Mass of body structure\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)

\General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\General finding of soft tissue\Skin finding\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Integumentary system finding\Skin finding\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)

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

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

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 Active 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 Active Entire term case sensitive (core metadata concept) SNOMED CT core

5282081000172110 syndroom van Cohen-Hayden nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

5282091000172113 proteus-achtig syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Proteus like syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Proteus like syndrome (disorder)	Is a	Multisystem disorder	false	Inferred relationship	Some
Proteus like syndrome (disorder)	Is a	Congenital hamartoma (disorder)	false	Inferred relationship	Some
Proteus like syndrome (disorder)	Associated morphology	Hamartoma	true	Inferred relationship	Some	1
Proteus like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Proteus like syndrome (disorder)	Is a	PTEN hamartoma tumor syndrome (disorder)	true	Inferred relationship	Some
Proteus like syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
Proteus like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Proteus like syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Proteus like syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Proteus like syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
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
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	Active	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	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5282081000172110	syndroom van Cohen-Hayden	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
5282091000172113	proteus-achtig syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)