722859001: PTEN hamartoma tumor 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)
\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)
\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)

\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)
\Mass of body structure\Hamartoma of integument (disorder)\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor 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)

\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)
\General finding of soft tissue\Skin finding\Mass of skin\Hamartoma of skin (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor 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)
\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)
\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)

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

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\PTEN hamartoma tumor syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\PTEN hamartoma tumor syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\PTEN hamartoma tumor syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\PTEN hamartoma tumor 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)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor 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)
\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)
\Disease\Neoplasm and/or hamartoma (disorder)\Hamartoma (disorder)\Congenital hamartoma (disorder)\Congenital hamartoma of skin (disorder)\PTEN hamartoma tumor syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\PTEN hamartoma tumor 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)
\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)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\PTEN hamartoma tumor 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)
\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)
\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)
\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)
\Disease\Developmental disorder\Developmental hereditary disorder\PTEN hamartoma tumor 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)

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

Descriptions:

Id Description Lang Type Status Case? Module

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

3333782011 PTEN hamartoma tumor syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3333783018 PTEN hamartoma tumour syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3644901010 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. 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
PTEN hamartoma tumor syndrome (disorder)	Associated morphology	Hamartoma	false	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	Hamartoma (disorder)	false	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	Multiple malformation syndrome with early overgrowth	true	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	Congenital hamartoma of skin (disorder)	true	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Associated morphology	Hamartoma	true	Inferred relationship	Some	1
PTEN hamartoma tumor syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
PTEN hamartoma tumor syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	1
PTEN hamartoma tumor syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
PTEN hamartoma tumor syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
PTEN hamartoma tumor syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
PTEN hamartoma tumor syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
PTEN hamartoma tumor syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2

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

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 (core metadata concept)	SNOMED CT core
3333782011	PTEN hamartoma tumor syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3333783018	PTEN hamartoma tumour syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3644901010	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core