880093002: 17q11 deletion syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Mass of body structure\Space-occupying lesion of nervous system\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Neurological lesion\Space-occupying lesion of nervous system\Neoplasm of nervous system\...
• \Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Mass of soft tissue (finding)\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Mass of soft tissue (finding)\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\17q11 deletion syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\17q11 deletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q11 deletion syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q11 deletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Monosomy and deletion from autosome (disorder)\Deletion of part of autosome\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q11 deletion syndrome (disorder)
• \Disease\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 17\Deletion of part of chromosome 17 (disorder)\Deletion of part of long arm of chromosome 17 (disorder)\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nerve sheath origin (disorder)\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of soft tissue (disorder)\Neoplasm of uncertain behavior of soft tissues\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplastic disease of uncertain behavior\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Skin tumour of neural origin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neoplasm of uncertain behavior of skin\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system (disorder)\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of nervous system\Neoplasm of uncertain behavior of nervous system\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Neoplasm of nervous system\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Neoplasm of skin\Neurocutaneous syndrome\Neurofibromatosis syndrome\Neurofibromatosis type 1\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \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\17q11 deletion syndrome (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\17q11 deletion syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\17q11 deletion syndrome (disorder)

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
3994484010	17q11 deletion syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3994485011	17q11 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3994486012	Neurofibromatosis type 1 microdeletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3994487015	Monosomy 17q11	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4008406018	Chromosome 17q11.2 deletion syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3994488013	17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterized by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4008405019	17q11 microdeletion syndrome is a rare severe form of neurofibromatosis type 1 characterised by mild facial dysmorphism, developmental delay, intellectual disability, increased risk of malignancies, and a large number of neurofibromas.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start