57011000052107: Refractory epilepsy due to tuberous sclerosis 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\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis 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\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Central nervous system finding\Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Central nervous system complication\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\...

\Finding of brain\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Finding of brain\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis 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\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Neurological finding\Seizure related finding\Seizure\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\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\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis 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\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Central nervous system complication\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Seizure disorder\Epilepsy\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Congenital disease (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Drug resistance\Drug resistance to anti-seizure medication (disorder)\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis 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\Tuberous sclerosis syndrome\Refractory epilepsy due to tuberous sclerosis syndrome (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Nov 2023. Module: SNOMED CT Sweden NRC maintained module (core metadata concept)

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Associated with	Tuberous sclerosis syndrome	false	Inferred relationship	Some	1
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Is a	refraktär epilepsi	false	Inferred relationship	Some
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Finding site	Cerebrum	false	Inferred relationship	Some	2
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Has definitional manifestation	Seizure	false	Inferred relationship	Some
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Is a	Central nervous system complication	true	Inferred relationship	Some
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Is a	Drug resistance to anti-seizure medication (disorder)	true	Inferred relationship	Some
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Is a	Tuberous sclerosis syndrome	true	Inferred relationship	Some
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Is a	Epilepsy	true	Inferred relationship	Some
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Due to	Tuberous sclerosis syndrome	true	Inferred relationship	Some	1
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Finding site	Skin structure	true	Inferred relationship	Some	3
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Associated morphology	Neoplasm	true	Inferred relationship	Some	3
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	4
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	4
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Associated morphology	Neoplasm and/or hamartoma (morphologic abnormality)	true	Inferred relationship	Some	4
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	5
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Finding site	Structure of multiple topographic sites	true	Inferred relationship	Some	5
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Associated morphology	Neoplasm and/or hamartoma (morphologic abnormality)	true	Inferred relationship	Some	5
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	6
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	6
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Associated morphology	Neoplasm	true	Inferred relationship	Some	6
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Associated with	Drug or medicament (substance)	true	Inferred relationship	Some	7
Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5867851000052113	Refractory epilepsy due to tuberous sclerosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
5867861000052111	Refractory epilepsy due to tuberous sclerosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
4047031000052110	refraktär epilepsi vid tuberös skleros	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)
5867871000052119	refraktär epilepsi orsakad av tuberös skleros	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)