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\Genodermatosis\Ectodermal dysplasia\Lelis syndrome

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\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\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\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 of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\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\Hereditary disorder of the integument\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 body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Lelis syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\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 of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\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\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lelis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lelis syndrome	Is a	Ectodermal dysplasia	true	Inferred relationship	Some
Lelis syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lelis syndrome	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Lelis syndrome	Is a	Acanthosis nigricans (disorder)	true	Inferred relationship	Some
Lelis syndrome	Has definitional manifestation	Abnormal keratinization	false	Inferred relationship	Some
Lelis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Lelis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
Lelis syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	3
Lelis syndrome	Finding site	Ectoderm structure	true	Inferred relationship	Some	3
Lelis syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Lelis syndrome	Finding site	Skin structure	false	Inferred relationship	Some	4
Lelis syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	1
Lelis syndrome	Interprets	Keratinization	true	Inferred relationship	Some	1
Lelis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lelis syndrome	Finding site	Skin structure	true	Inferred relationship	Some	2
Lelis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lelis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lelis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Lelis syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	3
Lelis syndrome	Is a	Keratosis	false	Inferred relationship	Some
Lelis syndrome	Is a	Inherited disorder of keratinisation	true	Inferred relationship	Some
Lelis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

Back to Start

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
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
11862101000172111	syndrome de dysplasie ectodermique avec acanthosis nigricans	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
11862111000172114	syndrome de Lelis	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4674571000172113	syndroom van Lelis	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4674581000172111	syndroom van ectodermale dysplasie met acanthosis nigricans	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4674591000172114	Lelis-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4674601000172116	ectodermale dysplasie-acanthosis nigricans-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)