782823001: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition 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\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

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

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic syndrome\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\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\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Cardiovascular disease\Cardiovascular system hereditary disorder\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of body system\Cardiovascular disease\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Familial disease\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Telangiectasia disorder\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Telangiectasia disorder\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
\Disease\Disorder of soft tissue\Vascular disorder\Vascular disease of the skin\Vascular lesion of skin\Telangiectasia of skin\Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3756078013 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Associated morphology	Telangiectasis	true	Inferred relationship	Some	1
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Finding site	Microscopic skin vascular structure	true	Inferred relationship	Some	1
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Telangiectasia disorder	false	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Familial disease	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	Is a	Telangiectasia of skin	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Cardiovascular finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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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	Case insensitive	SNOMED CT core
3756078013	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core