92824003: Neurofibromatosis type 1 (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 1
\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 1
\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 1
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\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 1
\Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\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 1
\Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Neurological lesion (finding)\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Neurological lesion (finding)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\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 1
\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 1
\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 1
\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 1
\General finding of soft tissue (finding)\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\General finding of soft tissue (finding)\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\General finding of soft tissue (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\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 1
\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 1
\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 1
\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 1
\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 1
\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 1

\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 1
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\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 1
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Disease\Genetic disease\Hereditary disease\Autosomal dominant hereditary disorder\Neurofibromatosis type 1
\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\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 1
\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 1
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\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 1
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue (disorder)\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\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 1
\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 1

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

1235773018 Neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3009083017 Neurofibromatosis 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3009124011 Neurofibromatosis, peripheral type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3009605014 Von Recklinghausen disease en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3670042010 Neurofibromatosis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) IPS terminology module (core metadata concept)

3671376015 NF1 - Neurofibromatosis type 1 en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) IPS terminology module (core metadata concept)

3704124016 Multiple non-ossifying fibromatosis 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 1	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Neurofibromatosis syndrome	true	Inferred relationship	Some
Neurofibromatosis type 1	Associated morphology	Neurofibromatosis (morphologic abnormality)	true	Inferred relationship	Some	1
Neurofibromatosis type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Neurofibromatosis type 1	Associated morphology	Neurofibromatosis (morphologic abnormality)	true	Inferred relationship	Some	2
Neurofibromatosis type 1	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurofibromatosis type 1	Finding site	Skin structure	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

International Patient Summary