7199000: 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 (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome

\Neurological lesion (finding)\Neurocutaneous syndrome\Tuberous sclerosis syndrome

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

\Central nervous system finding (finding)\Disorder of the central nervous system (disorder)\Tuberous sclerosis syndrome

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis 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\Tuberous sclerosis syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Tuberous sclerosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal dominant hereditary disorder\Tuberous sclerosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis 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\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis 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\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Tuberous sclerosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Tuberous sclerosis 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\Tuberous sclerosis 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
Tuberous sclerosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Disorder of the central nervous system (disorder)	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Neoplasm and/or hamartoma (morphologic abnormality)	true	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Neoplasm and/or hamartoma (morphologic abnormality)	true	Inferred relationship	Some	4
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	4
Tuberous sclerosis syndrome	Finding site	Structure of multiple topographic sites	true	Inferred relationship	Some	4

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
12873017	Tuberous sclerosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
12874011	Bourneville's disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)
12875012	Adenoma sebaceum syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
12876013	Epiloia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
12877016	Tuberous sclerosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
812216019	Tuberous sclerosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	IPS terminology module (core metadata concept)
1233444019	TS - Tuberous sclerosis	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	IPS terminology module (core metadata concept)