718631006: Annular epidermolytic ichthyosis (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Blister\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Blister\Bullous dermatosis\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin finding\Fragile skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis

\General finding of soft tissue\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Fragile skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue injury\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis

\Functional finding\Abnormal keratinisation\...

\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis

\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Injury of integument\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Fragile skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Abnormal keratinisation\Rough skin\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Traumatic or non-traumatic injury\Blister\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Traumatic or non-traumatic injury\Blister\Bullous dermatosis\Annular epidermolytic ichthyosis
\Disease\Traumatic or non-traumatic injury\Soft tissue injury\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Traumatic or non-traumatic injury\Injury of integument\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Skin or mucosa lesion\Blister\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Skin or mucosa lesion\Blister\Bullous dermatosis\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of keratinisation\Inherited disorder of keratinisation\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Injury of integument\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Keratosis\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Soft tissue injury\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Hereditary skin fragility\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Keratoderma\Ichthyosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Developmental disorder\Developmental hereditary disorder\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Congenital ichthyosis of skin\Autosomal dominant ichthyosis\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis

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

Descriptions:

Id Description Lang Type Status Case? Module

3313006014 Annular epidermolytic ichthyosis (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3313007017 Annular epidermolytic ichthyosis en Synonym Active Case insensitive SNOMED CT core

3313008010 A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Annular epidermolytic ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis	Associated morphology	Hyperkeratosis	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis	Associated morphology	Blister	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis	Finding site	Skin structure	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Annular epidermolytic ichthyosis	Interprets	Keratinisation	true	Inferred relationship	Some	2
Annular epidermolytic ichthyosis	Finding site	Entire skin	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis	Is a	Bullous dermatosis	true	Inferred relationship	Some
Annular epidermolytic ichthyosis	Is a	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Annular epidermolytic ichthyosis	Is a	Bullous ichthyosiform erythroderma	true	Inferred relationship	Some
Annular epidermolytic ichthyosis	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
Annular epidermolytic ichthyosis	Occurrence	Congenital	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis	Finding site	Skin structure	false	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

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Id	Description	Lang	Type	Status	Case?	Module
3313006014	Annular epidermolytic ichthyosis (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3313007017	Annular epidermolytic ichthyosis	en	Synonym	Active	Case insensitive	SNOMED CT core
3313008010	A rare clinical variant of epidermolytic ichthyosis, with manifestations of blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. It has been reported in less than 10 families. The disease is caused by mutations in the KRT1 (12q11-q13) and KRT10 (17q21-q23) genes, encoding keratins 1 and 10 respectively. These mutations impair keratin filament formation and weaken the structural stability of the keratinocyte cytoskeleton. Transmission is autosomal dominant.	en	Definition	Active	Case sensitive	SNOMED CT core