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

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Mass of body structure\Neoplasm of integumentary system\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\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\General finding of soft tissue\Mass of soft tissue\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\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\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 of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome

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

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\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 of skin and/or subcutaneous tissue\Disorder of skin\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\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary neoplastic 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\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Neoplasm and/or hamartoma\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\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 of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Tuberous sclerosis syndrome
\Disease\Congenital disease\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Tuberous sclerosis syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

1233444019 TS - Tuberous sclerosis en Synonym Active Case sensitive SNOMED CT core

12873017 Tuberous sclerosis syndrome en Synonym Active Case insensitive SNOMED CT core

12874011 Bourneville's disease en Synonym Active Case sensitive SNOMED CT core

12875012 Adenoma sebaceum syndrome en Synonym Active Case insensitive SNOMED CT core

12876013 Epiloia en Synonym Active Case insensitive SNOMED CT core

12877016 Tuberous sclerosis en Synonym Active Case insensitive SNOMED CT core

812216019 Tuberous sclerosis syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Tuberous sclerosis syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Pathological process	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	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	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	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Neoplasm and/or hamartoma	true	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Associated morphology	Neoplasm and/or hamartoma	true	Inferred relationship	Some	4
Tuberous sclerosis syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Adenoma	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	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	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Is a	Benign epithelial neoplasm of skin	false	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Familial multiple tumour 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	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	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Due to	Hamartoma	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Disorder of the central nervous system	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	Congenital hamartosis	false	Inferred relationship	Some
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	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Tuberous sclerosis syndrome	Is a	Hereditary neoplastic syndrome	true	Inferred relationship	Some
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Finding site	Structure of nervous system	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	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	false	Inferred relationship	Some	3
Tuberous sclerosis syndrome	Associated morphology	Adenoma	false	Inferred relationship	Some	2
Tuberous sclerosis syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Fibrous skin tumour of tuberous sclerosis	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some
Periungual fibroma in tuberous sclerosis	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	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
Pulmonary tuberous sclerosis	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some
Lymphangioleiomyomatosis due to tuberous sclerosis syndrome	Due to	True	Tuberous sclerosis syndrome	Inferred relationship	Some	1
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
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	Is a	True	Tuberous sclerosis syndrome	Inferred relationship	Some

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
1233444019	TS - Tuberous sclerosis	en	Synonym	Active	Case sensitive	SNOMED CT core
12873017	Tuberous sclerosis syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
12874011	Bourneville's disease	en	Synonym	Active	Case sensitive	SNOMED CT core
12875012	Adenoma sebaceum syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
12876013	Epiloia	en	Synonym	Active	Case insensitive	SNOMED CT core
12877016	Tuberous sclerosis	en	Synonym	Active	Case insensitive	SNOMED CT core
812216019	Tuberous sclerosis syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core