719429003: Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \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 (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Functional finding\Abnormal keratinization\Disorder of keratinisation\...
• \Acanthosis nigricans (disorder)\Lelis syndrome
• \Inherited disorder of keratinisation\Lelis syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Lelis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)\Lelis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Lelis syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Acanthosis nigricans (disorder)\Lelis syndrome
• \Integumentary system finding\Abnormal keratinization\Disorder of keratinisation\Inherited disorder of keratinisation\Lelis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Lelis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lelis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lelis syndrome
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Lelis syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Inherited disorder of keratinisation\Lelis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Acanthosis nigricans (disorder)\Lelis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Lelis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Lelis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Ectodermal dysplasia\Lelis syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3316315017	Lelis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316317013	Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316318015	Ectodermal dysplasia with acanthosis nigricans syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402104012	Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402105013	Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316315017	Lelis syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3316317013	Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316317013	Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316318015	Ectodermal dysplasia with acanthosis nigricans syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3316318015	Ectodermal dysplasia with acanthosis nigricans syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3316316016	The association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans. So far, only eight cases have been described in the literature. Other clinical features may include palmoplantar hyperkeratosis, nail dystrophy, intellectual deficit and hypodontia. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402104012	Lelis syndrome is characterized by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402105013	Lelis syndrome is characterised by the association of ectodermal dysplasia (hypotrichosis and hypohidrosis) with acanthosis nigricans.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3384511001000116	Lelis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6105481000241115	syndrome de dysplasie ectodermique avec acanthosis nigricans	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6105491000241118	syndrome de Lelis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6105481000241115	syndrome de dysplasie ectodermique avec acanthosis nigricans	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6105491000241118	syndrome de Lelis	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3384511001000116	Lelis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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