1208340009: Neurofibromatosis type 6 (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\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\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 of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6

\Disease\Genetic disease\Genetic disorder of skin pigmentation\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 of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Degenerative disorder\Degenerative skin 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\Genetic disorder of skin pigmentation\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\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 of skin\Degenerative skin 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 of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Skin deposits\Hyperpigmentation of skin\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Neurofibromatosis type 6
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hyperpigmentation of skin\Neurofibromatosis type 6

Status: current, Primitive. Date: 31-Mar 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4963728016 Multiple café-au-lait syndrome en Synonym Active Case insensitive SNOMED CT core

4963729012 NF6 - neurofibromatosis type 6 en Synonym Active Case sensitive SNOMED CT core

4963730019 Neurofibromatosis type 6 en Synonym Active Case insensitive SNOMED CT core

4963731015 Familial café-au-lait spots en Synonym Active Case insensitive SNOMED CT core

4963732010 Neurofibromatosis type 6 (disorder) en Fully specified name Active Case insensitive SNOMED CT core

4963733017 Multiple café-au-lait spots en Synonym Active Case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

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	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

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4963728016	Multiple café-au-lait syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4963729012	NF6 - neurofibromatosis type 6	en	Synonym	Active	Case sensitive	SNOMED CT core
4963730019	Neurofibromatosis type 6	en	Synonym	Active	Case insensitive	SNOMED CT core
4963731015	Familial café-au-lait spots	en	Synonym	Active	Case insensitive	SNOMED CT core
4963732010	Neurofibromatosis type 6 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
4963733017	Multiple café-au-lait spots	en	Synonym	Active	Case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core