782823001: familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma (aandoening)

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\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Soft tissue defect (disorder)\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition 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\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)

\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Cardiovascular finding\Blood vessel finding\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Familial disease\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Soft tissue defect (disorder)\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)
\Disease\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin (disorder)\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3756077015 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3756078013 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

9656461000146116 familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9656471000146110 familiair syndroom van cutane telangiectasia en predispositie voor orofaryngeale maligniteit nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

9656481000146112 familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3756079017 A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23. 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
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Associated morphology	Telangiectasis	true	Inferred relationship	Some	1
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Finding site	Microscopic skin vascular structure	true	Inferred relationship	Some	1
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Telangiectasia disorder	false	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Familial disease	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	Is a	Telangiectasia of skin (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

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US English

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Id	Description	Lang	Type	Status	Case?	Module
3756077015	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3756078013	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9656461000146116	familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9656471000146110	familiair syndroom van cutane telangiectasia en predispositie voor orofaryngeale maligniteit	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9656481000146112	familiair syndroom van cutane teleangiëctasie en predispositie voor maligne orofaryngeaal neoplasma (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3756079017	A rare inherited cancer-predisposing syndrome with characteristics of early development of cutaneous telangiectasia, mild dental and nail anomalies, patchy alopecia over the affected skin areas and increased lifetime risk for oropharyngeal cancer. Other types of cancer have also been reported. There is evidence the disease is caused by heterozygous mutation in the ATR gene on chromosome 3q23.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core