722859001: PTEN hamartoma tumor 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 tumor syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome

\Mass of body structure\Mass of soft tissue\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\Mass of body structure\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\Mass of body structure\Mass of body region\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome

\General finding of soft tissue\Mass of soft tissue\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor 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 tumor syndrome

\Integumentary system finding\Disorder of integument\Hamartoma of integument\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\PTEN hamartoma tumor 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 tumor syndrome
\Integumentary system finding\Skin finding\Mass of skin\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Hamartoma of skin\Congenital hamartoma of skin\PTEN hamartoma tumor syndrome

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

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3333781016 PTEN hamartoma tumor syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3333782011 PTEN hamartoma tumor syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3333783018 PTEN hamartoma tumour syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
PTEN hamartoma tumor syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Is a	Hamartoma	false	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Is a	Congenital hamartoma of skin	true	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Associated morphology	Hamartoma	true	Inferred relationship	Existential restriction modifier	1
PTEN hamartoma tumor syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
PTEN hamartoma tumor syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	1
PTEN hamartoma tumor syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Existential restriction modifier	1
PTEN hamartoma tumor syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
PTEN hamartoma tumor syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
PTEN hamartoma tumor syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
PTEN hamartoma tumor syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cowden syndrome	Is a	True	PTEN hamartoma tumor syndrome	Inferred relationship	Existential restriction modifier
Bannayan syndrome	Is a	True	PTEN hamartoma tumor syndrome	Inferred relationship	Existential restriction modifier
Proteus like syndrome	Is a	True	PTEN hamartoma tumor syndrome	Inferred relationship	Existential restriction modifier
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	Is a	True	PTEN hamartoma tumor syndrome	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3333781016	PTEN hamartoma tumor syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3333782011	PTEN hamartoma tumor syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3333783018	PTEN hamartoma tumour syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module