92824003: Neurofibromatosis type 1 (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\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\...

\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Neurofibromatosis type 1
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Neurofibromatosis type 1
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Neurofibromatosis type 1
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nerve sheath origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Neurofibromatosis type 1
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\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\Skin tumour of neural origin\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\Neoplasm of uncertain behaviour 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\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Neurofibromatosis type 1
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of body system\Neurological disorder\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Congenital disease\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1235773018 Neurofibromatosis type 1 en Synonym Active Case insensitive SNOMED CT core
153461018 Neurofibromatosis, type 1 en Synonym Inactive Case insensitive SNOMED CT core
153462013 Clinical von Reclinghausen's disease en Synonym Inactive Initial character case insensitive SNOMED CT core
3009083017 Neurofibromatosis 1 en Synonym Active Case insensitive SNOMED CT core
3009124011 Neurofibromatosis, peripheral type en Synonym Active Case insensitive SNOMED CT core
3009532013 NF1 en Synonym Inactive Initial character case insensitive SNOMED CT core
3009605014 Von Recklinghausen disease en Synonym Active Initial character case insensitive SNOMED CT core
3670042010 Neurofibromatosis type 1 (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3671376015 NF1 - Neurofibromatosis type 1 en Synonym Active Case sensitive SNOMED CT core
3704124016 Multiple non-ossifying fibromatosis en Synonym Active Case insensitive SNOMED CT core
836429011 Neurofibromatosis, type 1 (disorder) en Fully specified name Inactive Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Neurofibromatosis type 1	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Pathological process	Pathological developmental process	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Occurrence	Congenital	true	Inferred relationship	Some	2
Neurofibromatosis type 1	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Pathological process	Pathological developmental process	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Finding site	Structure of nervous system	true	Inferred relationship	Some	1
Neurofibromatosis type 1	Occurrence	Congenital	true	Inferred relationship	Some	1
Neurofibromatosis type 1	Associated morphology	Neurofibromatosis	true	Inferred relationship	Some	2
Neurofibromatosis type 1	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Developmental hereditary disorder	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Disorder of subcutaneous tissue	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Cutaneous neurofibroma	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Neoplasm of connective tissues	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Congenital anomaly of subcutaneous tissue	false	Inferred relationship	Some
Neurofibromatosis type 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Is a	Benign neoplasm of soft tissue	false	Inferred relationship	Some
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	Hamartoma	false	Inferred relationship	Some
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Is a	Neoplasm of uncertain behaviour of skin	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Skin tumour of neural origin	false	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Neoplasm of nerve sheath origin	false	Inferred relationship	Some
Neurofibromatosis type 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Is a	Neurofibromatosis syndrome	true	Inferred relationship	Some
Neurofibromatosis type 1	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Skin structure	true	Inferred relationship	Some	2
Neurofibromatosis type 1	Occurrence	Congenital	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Occurrence	Congenital	false	Inferred relationship	Some	4
Neurofibromatosis type 1	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
Neurofibromatosis type 1	Finding site	Structure of nervous system	false	Inferred relationship	Some	4
Neurofibromatosis type 1	Finding site	Structure of nervous system	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Finding site	Skin structure	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Occurrence	Congenital	false	Inferred relationship	Some
Neurofibromatosis type 1	Associated morphology	Dysplasia	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Finding site	Subcutaneous tissue structure	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	Neurofibromatosis	true	Inferred relationship	Some	1
Neurofibromatosis type 1	Finding site	Structure of nervous system	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Associated morphology	Pigment deposition	false	Inferred relationship	Some	2
Neurofibromatosis type 1	Finding site	Structure of skin region	false	Inferred relationship	Some	3
Neurofibromatosis type 1	Pathological process	Neoplastic process	false	Inferred relationship	Some
Neurofibromatosis type 1	Associated morphology	Neurofibroma	false	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
17q11 deletion syndrome	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Segmental neurofibromatosis type 1	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Familial spinal neurofibromatosis	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Axillary freckling due to neurofibromatosis	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Multiple café-au-lait macules due to neurofibromatosis	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Multiple neurofibromas in neurofibromatosis	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Plexiform neurofibroma	Is a	False	Neurofibromatosis type 1	Inferred relationship	Some
Elephantiasis neurofibromatosa	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some
Neurofibromatosis Noonan syndrome	Is a	True	Neurofibromatosis type 1	Inferred relationship	Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1235773018	Neurofibromatosis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
153461018	Neurofibromatosis, type 1	en	Synonym	Inactive	Case insensitive	SNOMED CT core
153462013	Clinical von Reclinghausen's disease	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
3009083017	Neurofibromatosis 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3009124011	Neurofibromatosis, peripheral type	en	Synonym	Active	Case insensitive	SNOMED CT core
3009532013	NF1	en	Synonym	Inactive	Initial character case insensitive	SNOMED CT core
3009605014	Von Recklinghausen disease	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3670042010	Neurofibromatosis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3671376015	NF1 - Neurofibromatosis type 1	en	Synonym	Active	Case sensitive	SNOMED CT core
3704124016	Multiple non-ossifying fibromatosis	en	Synonym	Active	Case insensitive	SNOMED CT core
836429011	Neurofibromatosis, type 1 (disorder)	en	Fully specified name	Inactive	Case insensitive	SNOMED CT core