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\Lesion of soft tissue (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\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 involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\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\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)\Proteus like syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\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\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 involving the integument of fetus OR newborn\Congenital hamartoma of skin (disorder)\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\Disorder of soft tissue\Lesion of soft tissue (disorder)\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

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

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

Component annotation with string value reference set (foundation metadata concept)

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
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