719429003: Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\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 of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome

\Functional finding\Abnormal keratinisation\Disorder of keratinisation\...

\Acanthosis nigricans\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\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 of skin\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\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Acanthosis nigricans\Lelis syndrome
\Integumentary system finding\Abnormal keratinisation\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\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\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 of skin\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\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
\Disease\Congenital disease\Congenital anomaly\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 of skin\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lelis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital ectodermal defect\Ectodermal dysplasia\Lelis syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Lelis syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3316315017 Lelis syndrome en Synonym Active Case sensitive SNOMED CT core

3316317013 Ectodermal dysplasia with acanthosis nigricans syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3316318015 Ectodermal dysplasia with acanthosis nigricans syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lelis syndrome	Pathological process	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	true	Inferred relationship	Some	2
Lelis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Lelis syndrome	Pathological process	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
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	true	Inferred relationship	Some
Lelis syndrome	Has definitional manifestation	Abnormal keratinisation	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 abnormality	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	Keratinisation	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3316315017	Lelis syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3316317013	Ectodermal dysplasia with acanthosis nigricans syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3316318015	Ectodermal dysplasia with acanthosis nigricans syndrome	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core