19133005: Neurofibromatosis 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\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome

\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Mass of body structure\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome

\Neurological lesion (finding)\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome
\Neurological lesion (finding)\Neurocutaneous syndrome\Neurofibromatosis syndrome

\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\General finding of soft tissue (finding)\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome

\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis 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 (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis 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 (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2024. Module: IPS terminology module (core metadata concept)

Descriptions:

Id Description Lang Type Status Case? Module

32248018 Neurofibromatosis syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
32249014 Clinical neurofibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
746931014 Neurofibromatosis syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)
1222239011 NF - Neurofibromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofibromatosis syndrome	Is a	Neurocutaneous syndrome	true	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Neoplasm of uncertain behavior of nervous system	true	Inferred relationship	Some
Neurofibromatosis syndrome	Is a	Neoplasm of uncertain behavior of skin	true	Inferred relationship	Some
Neurofibromatosis syndrome	Associated morphology	Neurofibromatosis (morphologic abnormality)	true	Inferred relationship	Some	1
Neurofibromatosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurofibromatosis syndrome	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Neurofibromatosis syndrome	Associated morphology	Neurofibromatosis (morphologic abnormality)	true	Inferred relationship	Some	2
Neurofibromatosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurofibromatosis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Neurofibromatosis type 2	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some
Neurofibromatosis type 1	Is a	True	Neurofibromatosis syndrome	Inferred relationship	Some

Reference Sets

International Patient Summary