78572006: Neurocutaneous syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding by site\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Finding of body region\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Finding of body region\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Neurocutaneous syndrome
\Finding by site\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neurocutaneous syndrome
\Finding by site\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome

\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neurocutaneous syndrome
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Neurocutaneous syndrome
\Disease\Disorder by body site (disorder)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neurocutaneous syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Neurocutaneous syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neurocutaneous syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Neurocutaneous syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neurocutaneous syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module	Reference Sets
130379012	Neuroectodermal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
130382019	Neurocutaneous syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
130383012	Phacomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
130384018	Phakomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
819527015	Neurocutaneous syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
1234270011	Phakomatoses	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
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
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
Vascular neurocutaneous syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder)	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 (disorder)	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 (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Gomez Lopez Hernandez syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Papular epidermal naevi with skyline basal cell layers syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some

Reference Sets

Description inactivation indicator reference set

GB English

US English

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