92503002: Neurofibromatosis type 2 (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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2

\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\Neurofibromatosis type 2
\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Mass of body region\Mass of head and/or neck (finding)\Neurofibromatosis type 2
\Mass of body structure\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Mass of body structure\Benign neoplasm of cranial nerve\Neurofibromatosis type 2

\Neurological lesion (finding)\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Neurological lesion (finding)\Benign neoplasm of cranial nerve\Neurofibromatosis type 2
\Neurological lesion (finding)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2

\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\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Disorder of soft tissue\Peripheral nerve disease\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\General finding of soft tissue (finding)\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2

\Disease\Genetic disease\Neurofibromatosis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease\Schwannoma\Neurofibromatosis type 2
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Benign neoplastic disease\Benign neoplasm of cranial nerve\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Peripheral nerve disease\Neurofibromatosis type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neuropathy (disorder)\Cranial nerve disorder\Benign neoplasm of cranial nerve\Neurofibromatosis type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Peripheral nerve disease\Neurofibromatosis type 2
\Disease\Disorder of soft tissue\Peripheral nerve disease\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 2
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 2
\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\Neurofibromatosis type 2
\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\Neurofibromatosis type 2

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

153053015 Bilateral acoustic neurofibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

1235732019 BANF - Bilateral acoustic neurofibromatosis en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

1235733012 Neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3010344011 Neurofibromatosis type 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3011984015 Familial vestibular schwannoma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3012415015 Neurofibromatosis, central type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3028699012 Familial acoustic neuroma en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5169986016 Full NF2-related schwannomatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5170012017 Nonmosaic NF2-related schwannomatosis en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5170013010 Full neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

5170014016 Nonmosaic neurofibromatosis type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofibromatosis type 2	Is a	Schwannoma	true	Inferred relationship	Some
Neurofibromatosis type 2	Is a	Neurofibromatosis syndrome	true	Inferred relationship	Some
Neurofibromatosis type 2	Is a	Mass of head and/or neck (finding)	true	Inferred relationship	Some
Neurofibromatosis type 2	Is a	Peripheral nerve disease	true	Inferred relationship	Some
Neurofibromatosis type 2	Is a	Genetic disease	true	Inferred relationship	Some
Neurofibromatosis type 2	Is a	Benign neoplasm of cranial nerve	true	Inferred relationship	Some
Neurofibromatosis type 2	Associated morphology	Neurofibromatosis (morphologic abnormality)	true	Inferred relationship	Some	1
Neurofibromatosis type 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurofibromatosis type 2	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Neurofibromatosis type 2	Associated morphology	Neurofibromatosis (morphologic abnormality)	true	Inferred relationship	Some	2
Neurofibromatosis type 2	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurofibromatosis type 2	Finding site	Skin structure	true	Inferred relationship	Some	2
Neurofibromatosis type 2	Associated morphology	Schwannoma	true	Inferred relationship	Some	3
Neurofibromatosis type 2	Finding site	Vestibulocochlear nerve structure	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary