78572006: Neurocutaneous 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
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome

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

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous 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

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

\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous 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
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous 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
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome
\Disease\Congenital disease\Neurocutaneous syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

1234270011 Phakomatoses en Synonym Active Case insensitive SNOMED CT core
130379012 Neuroectodermal dysplasia en Synonym Active Case insensitive SNOMED CT core
130380010 Neuroectodermal dysplasia, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
130381014 Phakomatosis, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core
130382019 Neurocutaneous syndrome en Synonym Active Case insensitive SNOMED CT core
130383012 Phacomatosis en Synonym Active Case insensitive SNOMED CT core
130384018 Phakomatosis en Synonym Active Case insensitive SNOMED CT core
819527015 Neurocutaneous syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurocutaneous syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Is a	Neoplasm of nervous system	true	Inferred relationship	Some
Neurocutaneous syndrome	Is a	Congenital disease	true	Inferred relationship	Some
Neurocutaneous syndrome	Is a	Neoplasm of skin	true	Inferred relationship	Some
Neurocutaneous syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	1
Neurocutaneous syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Some
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Is a	Skin lesion	false	Inferred relationship	Some
Neurocutaneous syndrome	Is a	Neoplastic disease	false	Inferred relationship	Some
Neurocutaneous syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Neurocutaneous syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Neurocutaneous syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Neurocutaneous syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Neurocutaneous syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Neurocutaneous syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Neurocutaneous syndrome	Finding site	Structure of nervous system	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Finding site	Structure of skin region	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	Neoplasm	false	Inferred relationship	Some
Neurocutaneous syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
PENS syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Proteus syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Sturge-Weber syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Von Hippel-Lindau syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Peutz-Jeghers syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Vascular neurocutaneous syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Tuberous sclerosis syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
[X]Other phakomatoses, not elsewhere classified	Is a	False	Neurocutaneous syndrome	Inferred relationship	Some
Posterior fossa brain malformation, haemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Posterior fossa brain malformation, haemaniogma, arterial anomaly, cardiac defect and aortic coarctation, eye abnormality synodrome and sternal anomaly syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Phakomatosis cesioflammea	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Phakomatosis spilorosea	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Phakomatosis caesiomarmorata	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Cerebral-retinal arteriovenous aneurysm	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
CEDNIK syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Gomez Lopez Hernandez syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Neuroectodermal melanolysosomal disease	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Hypo-and hypermelanotic cutaneous macules, retarded growth, intellectual disability syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1234270011	Phakomatoses	en	Synonym	Active	Case insensitive	SNOMED CT core
130379012	Neuroectodermal dysplasia	en	Synonym	Active	Case insensitive	SNOMED CT core
130380010	Neuroectodermal dysplasia, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
130381014	Phakomatosis, NOS	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
130382019	Neurocutaneous syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
130383012	Phacomatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
130384018	Phakomatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
819527015	Neurocutaneous syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core