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1208340009: neurofibromatose type 6 (aandoening)

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 of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6

\Disease\Genetic disease\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Neurofibromatosis type 6
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurofibromatosis type 6
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of pigmentation (disorder)\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Neurofibromatosis type 6
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Lesion of skin AND/OR subcutaneous tissue (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Genetic disorder of skin pigmentation (disorder)\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Disorder of skin pigmentation (disorder)\Hyperpigmentation of skin\Neurofibromatosis type 6

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofibromatosis type 6	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Neurofibromatosis type 6	Is a	Hyperpigmentation of skin	true	Inferred relationship	Some
Neurofibromatosis type 6	Is a	Genetic disorder of skin pigmentation (disorder)	true	Inferred relationship	Some
Neurofibromatosis type 6	Finding site	Skin structure	true	Inferred relationship	Some	1
Neurofibromatosis type 6	Associated morphology	Hyperpigmentation	true	Inferred relationship	Some	1
Neurofibromatosis type 6	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
4963728016	Multiple café-au-lait syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4963729012	NF6 - neurofibromatosis type 6	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4963730019	Neurofibromatosis type 6	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4963731015	Familial café-au-lait spots	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4963732010	Neurofibromatosis type 6 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4963733017	Multiple café-au-lait spots	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5170015015	Familial CALMs (café-au-lait macules) isolated	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5170016019	Familial isolated café-au-lait spots	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5170017011	Familial isolated café-au-lait macules	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13611891000146112	familiaire multipele 'café au lait'-vlekken	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13611901000146113	neurofibromatose type 6	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13611911000146110	familiaire multipele café-au-laitvlekken	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13611921000146117	neurofibromatose type 6 (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4963734011	A cutaneous disorder with characteristics of the presence of several café-au-lait (CAL) macules without any other manifestations of neurofibromatosis or any other systemic disorder. Prevalence is unknown, but the disease appears to be extremely rare. The macules may appear in infancy, but usually they are detected after 2 years of age. Close linkage to the NF1 gene (17q11.2) has been reported in some cases. Transmission is autosomal dominant.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core