716862002: Proteus like syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumour syndrome\Proteus like syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumour syndrome\Proteus like syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumour syndrome\Proteus like syndrome

\Mass of body structure\Mass of soft tissue\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumour syndrome\Proteus like syndrome
\Mass of body structure\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumour syndrome\Proteus like syndrome
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumour syndrome\Proteus like syndrome

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

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

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3307821014 Proteus like syndrome en Synonym Active Case insensitive SNOMED CT core

3307822019 Cohen-Hayden syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3307820010	Proteus like syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3307821014	Proteus like syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3307822019	Cohen-Hayden syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core