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

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

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

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

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

Status: current, Primitive. 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 Case sensitive SNOMED CT core
3333782011 PTEN hamartoma tumor syndrome en Synonym Active Case sensitive SNOMED CT core
3333783018 PTEN hamartoma tumour syndrome en Synonym Active Case sensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

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

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
3333781016	PTEN hamartoma tumor syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3333782011	PTEN hamartoma tumor syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3333783018	PTEN hamartoma tumour syndrome	en	Synonym	Active	Case sensitive	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	Case sensitive	SNOMED CT core