718631006: ichtyose épidermolytique annulaire (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Blister\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Blister\Bullous dermatosis\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Fragile skin\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)

\constatation générale à propos des tissus mous\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Skin finding\Fragile skin\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion traumatique des tissus mous\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)

\constatation fonctionnelle\Abnormal keratinisation\...

\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)

\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\Injury of integument\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Skin finding\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Skin finding\Fragile skin\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinisation\Rough skin (finding)\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Integumentary system finding\Abnormal keratinisation\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\lésion traumatique ou non traumatique (trouble)\Blister\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\lésion traumatique ou non traumatique (trouble)\Blister\Bullous dermatosis\Annular epidermolytic ichthyosis (disorder)
\Disease\lésion traumatique ou non traumatique (trouble)\lésion traumatique des tissus mous\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\lésion traumatique ou non traumatique (trouble)\Injury of integument\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\Blister\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\Blister\Bullous dermatosis\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Disorder of keratinisation\Inherited disorder of keratinization\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Injury of integument\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\kératose\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Disorder of soft tissue\lésion traumatique des tissus mous\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Hereditary skin fragility (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Keratoderma\Ichthyosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Blister of skin\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\ichtyose congénitale\Autosomal dominant ichthyosis (disorder)\Bullous ichthyosiform erythroderma\Annular epidermolytic ichthyosis (disorder)

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

3313006014 Annular epidermolytic ichthyosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3313007017 Annular epidermolytic ichthyosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

752431000241114 ichtyose épidermolytique annulaire (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

971141000172119 AEI - annular epidermolytic ichthyosis fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

971391000172110 ichtyose épidermolytique annulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Annular epidermolytic ichthyosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis (disorder)	morphologie associée (attribut)	Hyperkeratosis	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis (disorder)	morphologie associée (attribut)	Blister	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis (disorder)	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
Annular epidermolytic ichthyosis (disorder)	a pour interprétation (attribut)	anormal	true	Inferred relationship	Some	2
Annular epidermolytic ichthyosis (disorder)	interprète (attribut)	Keratinization, function (observable entity)	true	Inferred relationship	Some	2
Annular epidermolytic ichthyosis (disorder)	localisation d'une constatation (attribut)	Entire skin	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis (disorder)	est un(e) (attribut)	Bullous dermatosis	true	Inferred relationship	Some
Annular epidermolytic ichthyosis (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	false	Inferred relationship	Some
Annular epidermolytic ichthyosis (disorder)	est un(e) (attribut)	Bullous ichthyosiform erythroderma	true	Inferred relationship	Some
Annular epidermolytic ichthyosis (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
Annular epidermolytic ichthyosis (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Annular epidermolytic ichthyosis (disorder)	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets