46659004: Von Hippel-Lindau 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\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

\Neurological lesion (finding)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Von Hippel-Lindau syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
77765013	Von Hippel-Lindau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
77766014	Familial cerebello-retinal angiomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
77767017	Lindau' disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
77768010	Cerebroretinal angiomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
494574010	Lindau's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
784032018	Von Hippel-Lindau syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
4579935012	VHL (Von Hippel-Lindau) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)