707273001: Autosomal dominant dyskeratosis congenita (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\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Integumentary system finding\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Fetal and/or neonatal disorder\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of body system\Disorder of integument\Fetal and/or neonatal disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of soft tissue\Lesion of soft tissue (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Dyskeratosis congenita\Autosomal dominant dyskeratosis congenita (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3029387019	Autosomal dominant dyskeratosis congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3029520015	Autosomal dominant dyskeratosis congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5765981000241117	dyskératose congénitale autosomique dominante	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

Back to Start