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

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Mass of body structure\Neoplasm of integumentary system\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\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue\Mass of soft tissue\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\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\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\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 of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

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

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic 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\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\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\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 of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Von Hippel-Lindau syndrome
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Congenital disease\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Von Hippel-Lindau syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4579935012 VHL (Von Hippel-Lindau) syndrome en Synonym Active Case sensitive SNOMED CT core

494574010 Lindau's disease en Synonym Active Case sensitive SNOMED CT core

77765013 Von Hippel-Lindau syndrome en Synonym Active Case sensitive SNOMED CT core

77766014 Familial cerebello-retinal angiomatosis en Synonym Active Case insensitive SNOMED CT core

77767017 Lindau' disease en Synonym Active Case sensitive SNOMED CT core

77768010 Cerebroretinal angiomatosis en Synonym Active Case insensitive SNOMED CT core

784032018 Von Hippel-Lindau syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Von Hippel-Lindau syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Pathological process	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
Von Hippel-Lindau syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Is a	Cerebellar disorder	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	Encephalopathy	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	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	Hamartoma	false	Inferred relationship	Some
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Von Hippel-Lindau syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Von Hippel-Lindau syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Von Hippel-Lindau syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Von Hippel-Lindau syndrome	Finding site	Structure of nervous system	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	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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Family history of Von Hippel-Lindau syndrome	Associated finding	True	Von Hippel-Lindau syndrome	Inferred relationship	Some	1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

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