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

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\Mass of body structure\Neoplasm of integumentary system (disorder)\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 (disorder)\Neurocutaneous syndrome

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

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

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\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 (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Integumentary system finding\Skin finding (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Skin lesion (disorder)\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 (disorder)\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 (disorder)\Neurocutaneous syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\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 (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of nervous system (disorder)\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 (disorder)\Neoplasm of skin\Neurocutaneous syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion (disorder)\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 (disorder)	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	Occurrence	Congenital	false	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	Neoplasm	false	Inferred relationship	Some
Neurocutaneous syndrome	Associated morphology	Dysplasia	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Is a	Site-specific disorder of skin	false	Inferred relationship	Some
Neurocutaneous syndrome	Associated morphology	kongenit anomali	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	kongenit anomali	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurocutaneous syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Neurocutaneous syndrome	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Neurocutaneous syndrome	Finding site	Structure of nervous system (body structure)	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Finding site	Skin structure	false	Inferred relationship	Some	3
Neurocutaneous syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Neurocutaneous syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Neurocutaneous syndrome	Pathological process (attribute)	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 (disorder)	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	Is a	Disorder involving the integument of fetus OR newborn	true	Inferred relationship	Some

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	False	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	False	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
A rare, genetic, neurocutaneous disease characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. Patients present with a unique constellation of clinical signs described with the acronym CEDNIK: CErebral Dysgenesis, Neuropathy, Ichthyosis, and palmoplantar Keratoderma.	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
A rare genetic neurological disease characterized by silvery hair, profound dysfunction of central nervous system, abnormal melanocytes and melanosomes and abnormal inclusion bodies in fibroblast and other cells.	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
A rare genetic neurocutaneous syndrome with characteristics of the presence of randomly distributed, small, white to yellowish, multiple, rounded or irregular poly cyclically-shaped, epidermal keratotic papules and plaques of gem-like appearance with a rough surface, typically located on the trunk and proximal limbs. Associated with variable neurological abnormalities, including psychomotor delay, epilepsy, speech and language impairment and attention deficit-hyperactivity disorder. Clumsiness, dyslexia and ophthalmological abnormalities have also been reported.	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some
A very rare and complex hamartomatous overgrowth disorder with characteristics of progressive overgrowth of the skeleton, skin, adipose, and central nervous systems. Neonates usually appear normal at birth. Onset usually occurs from 6-18 months of age with asymmetric overgrowth seen mainly in the hands or feet. Causal mutations have been reported in two components of the phosphatidylinositol 3-kinase (PI3K)-AKT pathway: PTEN and AKT1. The AKT1 mutation is a somatic mosaic. PTEN mutations have been reported both in the constitutive DNA and as somatic mosaic mutations. The disease is not inherited in those with a somatic AKT1 de novo mutation; PTEN mutations are inherited autosomal dominantly.	Is a	True	Neurocutaneous syndrome	Inferred relationship	Some

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
2002351000005111	Fakomatose	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)