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

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

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

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

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

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

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	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Multisystem disorder U-V	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Disorder of skin AND/OR subcutaneous tissue of head (disorder)	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Congenital anomaly of head	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Congenital hamartosis	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Neoplasm	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Cerebellar structure	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	Angiomatosis	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Is a	Cerebellar disorder	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	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	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of Von Hippel-Lindau syndrome (situation)	Associated finding	True	Von Hippel-Lindau syndrome	Inferred relationship	Some	1
Pre-existing Von Hippel-Lindau syndrome in pregnancy	Is a	True	Von Hippel-Lindau syndrome	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

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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
349701000146119	syndroom van Von Hippel-Lindau	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672791000146118	Von Hippel-Lindau-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
10672801000146119	Von Hippel-Lindau-syndroom (aandoening)	nl	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12506541000146112	ziekte van Von Hippel-Lindau	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
12506561000146113	VHL	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13081521000146117	VHL; erfelijke aandoening waarbij een verhoogde kans aanwezig is op goed- of kwaadaardige tumoren in onder meer de ogen, kleine hersenen, alvleesklier en (bij)nieren.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)