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

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

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau 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\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome (disorder)

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

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

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Von Hippel-Lindau syndrome (disorder)	Is a	Disorder of brain	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	Multisystem disorder U-V	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	Neurocutaneous syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	Congenital anomaly of head	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	Hamartomatous disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Neoplasm	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Finding site	Cerebellar structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Angiomatosis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Is a	trouble multisytémique	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Is a	Cerebellar disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Hamartoma	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Von Hippel-Lindau syndrome (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Von Hippel-Lindau syndrome (disorder)	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Von Hippel-Lindau syndrome (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Neoplasm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Von Hippel-Lindau syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Von Hippel-Lindau syndrome (disorder)	Associated morphology	Neoplasm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of Von Hippel-Lindau syndrome (situation)	Associated finding	True	Von Hippel-Lindau syndrome (disorder)	Inferred relationship	Existential restriction modifier (core metadata concept)	1

This concept is not in any reference sets

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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)	SNOMED CT core
77766014	Familial cerebello-retinal angiomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
77767017	Lindau' disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
77768010	Cerebroretinal angiomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494574010	Lindau's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
784032018	Von Hippel-Lindau syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4579935012	VHL (Von Hippel-Lindau) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
77765013	Von Hippel-Lindau syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
77765013	Von Hippel-Lindau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
77766014	Familial cerebello-retinal angiomatosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
77766014	Familial cerebello-retinal angiomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
77767017	Lindau' disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
77768010	Cerebroretinal angiomatosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
77768010	Cerebroretinal angiomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
494572014	von Hippel-Lindau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
494573016	VHL - von Hippel-Lindau syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
494574010	Lindau's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
784032018	Von Hippel-Lindau syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
784032018	Von Hippel-Lindau syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4579935012	VHL (Von Hippel-Lindau) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
373101000274116	Von-Hippel-Lindau-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438861001000111	Von-Hippel-Lindau-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
122541000077114	angiomatose rétinocérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
388151000172114	maladie de von Hippel-Lindau	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
469301000172110	syndrome de Von Hippel-Lindau	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
122541000077114	angiomatose rétinocérébelleuse	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
388151000172114	maladie de von Hippel-Lindau	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
469301000172110	syndrome de Von Hippel-Lindau	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
373101000274116	Von-Hippel-Lindau-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438861001000111	Von-Hippel-Lindau-Krankheit	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module