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

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\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 (finding)\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 (disorder)\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 (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous 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
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous 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

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neurocutaneous 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
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome

\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\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 (disorder)\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 involving the integument of fetus OR newborn\Neurocutaneous 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
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neoplasm of nervous system\Neurocutaneous syndrome
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous 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

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
Neurocutaneous syndrome	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Is a	Neoplastic disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Is a	Congenital anomaly of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Finding site	Structure of skin region (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	Neoplasm	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Is a	Congenital anomaly of nervous system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurocutaneous syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurocutaneous syndrome	Finding site	Nervous system structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Neurocutaneous syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Is a	Neoplasm of nervous system	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Is a	Congenital disease	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Is a	Neoplasm of skin	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Neurocutaneous syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Neurocutaneous syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Associated morphology	Neoplasm	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Neurocutaneous syndrome	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neurofibromatosis syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Sturge-Weber syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Von Hippel-Lindau syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Peutz-Jeghers syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Tuberous sclerosis syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
[X]Other phakomatoses, not elsewhere classified	Is a	False	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Vascular neurocutaneous syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
PHACE syndrome	Is a	False	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
syndrome de malformations de la fosse postérieure, hémangiomes capillaires, anomalies de l'anatomie des artères cérébrales, coarctation de l'aorte et autres malformations cardiaques, anomalies oculaires et anomalies sternales	Is a	False	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Phakomatosis cesioflammea	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Phakomatosis spilorosea (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Phakomatosis caesiomarmorata	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral-retinal arteriovenous aneurysm (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Cerebral dysgenesis, neuropathy, ichthyosis, palmoplantar keratoderma syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Gomez Lopez Hernandez syndrome (disorder)	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Neuroectodermal melanolysosomal disease	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary congenital hypomelanotic and hypermelanotic cutaneous macules, growth retardation, intellectual disability syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Papular epidermal naevi with skyline basal cell layers syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Proteus syndrome	Is a	True	Neurocutaneous syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
130379012	Neuroectodermal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130382019	Neurocutaneous syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130383012	Phacomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130384018	Phakomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819527015	Neurocutaneous syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234270011	Phakomatoses	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130379012	Neuroectodermal dysplasia	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130379012	Neuroectodermal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130382019	Neurocutaneous syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130382019	Neurocutaneous syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130383012	Phacomatosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130383012	Phacomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
130384018	Phakomatosis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
130384018	Phakomatosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
819527015	Neurocutaneous syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
819527015	Neurocutaneous syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1234270011	Phakomatoses	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1234270011	Phakomatoses	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4646731000241116	dysplasie neuro-ectodermique congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4646731000241116	dysplasie neuro-ectodermique congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module