1003465006: Familial spinal neurofibromatosis (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 (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis

\Finding of back (finding)\Mass of back (finding)\Intraspinal space-occupying lesion\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Mass of back (finding)\Neoplasm of back\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Finding of back (finding)\Mass of back (finding)\Neoplasm of back\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Mass of back (finding)\Neoplasm of back\Neoplasm of uncertain behavior of back (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Finding of spinal region\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Intraspinal space-occupying lesion\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Finding of spinal region\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Disorder of back\Neoplasm of back\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Finding of back (finding)\Disorder of back\Neoplasm of back\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Finding of back (finding)\Disorder of back\Neoplasm of back\Neoplasm of uncertain behavior of back (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of back (finding)\Intraspinal space-occupying lesion\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of back (finding)\Neoplasm of back\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of back (finding)\Neoplasm of back\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of back (finding)\Neoplasm of back\Neoplasm of uncertain behavior of back (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Mass of body region (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Space-occupying lesion of nervous system\Intraspinal space-occupying lesion\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\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 (disorder)\Familial spinal neurofibromatosis
\Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis

\Neurological lesion\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Neurological lesion\Space-occupying lesion of nervous system\Intraspinal space-occupying lesion\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\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 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis

\Central nervous system finding\Finding of spinal cord (finding)\Intraspinal space-occupying lesion\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Central nervous system finding\Finding of spinal cord (finding)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Central nervous system finding\Disorder of the central nervous system (disorder)\Neoplasm of central nervous system\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Central nervous system finding\Disorder of the central nervous system (disorder)\Neoplasm of central nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Central nervous system finding\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nerve sheath origin (disorder)\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of back\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of back\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of back\Neoplasm of uncertain behavior of back (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behaviour of nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behavior of soft tissues (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behavior of back (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\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 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\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\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\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\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\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\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neoplasm of nervous system\Neoplasm of central nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neoplasm of nervous system\Neoplasm of uncertain behaviour of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Neoplasm of central nervous system\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Neoplasm of central nervous system\Neoplasm of uncertain behavior of central nervous system (disorder)\Neoplasm of uncertain behavior of brain and/or spinal cord (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of back\Disorder of spinal region (disorder)\Spinal cord disorder (disorder)\Lesion of spinal cord\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of back\Neoplasm of back\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Disease\Disorder of back\Neoplasm of back\Neoplasm of spinal cord\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of back\Neoplasm of back\Neoplasm of uncertain behavior of back (disorder)\Neoplasm of uncertain behavior of spinal cord (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Tumour of soft tissue of back\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues (disorder)\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1 (disorder)\Familial spinal neurofibromatosis

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4168314018 Familial spinal neurofibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168315017 Familial spinal neurofibromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168314018 Familial spinal neurofibromatosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4168315017 Familial spinal neurofibromatosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

6218421000241110 neurofibromatose spinale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6218421000241110 neurofibromatose spinale familiale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial spinal neurofibromatosis	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Congenital anomaly of spinal cord	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Neoplasm of uncertain behavior of spinal cord (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Neurofibromatosis syndrome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Hereditary disorder of the integument (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Hereditary disorder of nervous system (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Developmental hereditary disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Is a	Tumour of soft tissue of back	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial spinal neurofibromatosis	Finding site	Spinal cord structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial spinal neurofibromatosis	Associated morphology	Neurofibromatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial spinal neurofibromatosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial spinal neurofibromatosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Familial spinal neurofibromatosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial spinal neurofibromatosis	Associated morphology	Neurofibromatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial spinal neurofibromatosis	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial spinal neurofibromatosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Familial spinal neurofibromatosis	Is a	Neurofibromatosis type 1 (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set