1332134000: Maculopapular cutaneous mastocytosis (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\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\White blood cell disorder\Mast cell disorder (disorder)\...
• \Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Non malignant mast cell disease\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of immune function (disorder)\Chronic disease of immune function (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of immune function (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of hematopoietic cell proliferation (disorder)\Mast cell neoplasm (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of cellular component of blood (disorder)\White blood cell disorder\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Mast cell neoplasm (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of hematopoietic cell type (disorder)\Hematologic neoplasm of uncertain behavior\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Hematologic neoplasm of uncertain behavior\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Chronic disease of immune structure (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of immune structure (disorder)\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Mast cell disorder (disorder)\Mast cell activation syndrome (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Mast cell disorder (disorder)\Non malignant mast cell disease\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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 behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Chronic disease\Chronic disease of immune structure (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Chronic disease\Chronic disease of immune function (disorder)\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Chronic disease\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Chronic disease of skin\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Papule of skin\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.
• \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\Cutaneous mastocytosis (disorder)\A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-May 2024. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5348986015	A form of cutaneous mastocytosis (CM) characterised by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the paediatric population and the aetiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5348987012	A form of cutaneous mastocytosis (CM) characterized by the presence of multiple hyperpigmented macules, papules or nodules associated with abnormal accumulation of mast cells in the skin. Most patients present in infancy or childhood, but onset may also occur in adulthood. Mutations in the KIT gene (4q11-q12) have been identified however this mutation is rare in the pediatric population and the etiology and pathogenesis in these cases remains to be determined. The disease generally occurs sporadically but rare familial cases have been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5348984017	Maculopapular cutaneous mastocytosis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5348985016	Maculopapular cutaneous mastocytosis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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