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

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

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome

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

\Central nervous system 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\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Tuberous sclerosis syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\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\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Tuberous sclerosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Tuberous sclerosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Tuberous sclerosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Tuberous sclerosis syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\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\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\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\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of nervous system\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\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\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\Neurocutaneous syndrome\Tuberous sclerosis 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
Tuberous sclerosis syndrome	Is a	Neurocutaneous syndrome	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	Congenital hamartosis	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Adenoma, no subtype	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Adenoma, no subtype	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Is a	Benign neoplasm of central nervous system	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Benign neoplasm of skin	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Adenoma, no subtype	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Adenoma, no subtype	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Is a	Benign epithelial neoplasm of skin (disorder)	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Familial multiple tumor syndrome	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Adenoma, no subtype	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Due to	Hamartoma (disorder)	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Hamartoma	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Congenital hamartoma (disorder)	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Mass of body structure	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Finding site	Structure of multiple topographic sites	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	3
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
Tuberous sclerosis syndrome	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Neoplasm and/or hamartoma (morphologic abnormality)	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Neoplasm and/or hamartoma (morphologic abnormality)	true	Inferred relationship	Some	4

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Pulmonary tuberous sclerosis (disorder)	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some
Ash leaf spot, tuberous sclerosis	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some
Shagreen patch	Is a	False	Tuberous sclerosis syndrome	Inferred relationship	Some
Fibrous skin tumor of tuberous sclerosis	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some
Periungual fibroma in tuberous sclerosis (disorder)	Is a	False	Tuberous sclerosis syndrome	Inferred relationship	Some
Family history of tuberous sclerosis	Associated finding	False	Tuberous sclerosis syndrome	Inferred relationship	Some	1
Periungual fibroma in tuberous sclerosis (disorder)	Due to	True	Tuberous sclerosis syndrome	Inferred relationship	Some	2
Family history of tuberous sclerosis	Associated finding	True	Tuberous sclerosis syndrome	Inferred relationship	Some	1
Family history of tuberous sclerosis	Associated finding	False	Tuberous sclerosis syndrome	Inferred relationship	Some	1
Lymphangioleiomyomatosis due to tuberous sclerosis syndrome (disorder)	Due to	True	Tuberous sclerosis syndrome	Inferred relationship	Some	1
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis (disorder)	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some

This concept is not in any reference sets

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