79855003: épidermolyse bulleuse jonctionnelle congénitale (trouble)

SNOMED CT Concept\constatation clinique\...

\Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...

\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa

\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\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)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\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\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\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\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\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\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\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\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\trouble du développement\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Congenital junctional epidermolysis bullosa

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Epidermolysis	true	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Congenital anomaly	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	est un(e) (attribut)	Junctional epidermolysis bullosa (disorder)	true	Inferred relationship	Some
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	est un(e) (attribut)	Junctional epidermolysis bullosa	false	Inferred relationship	Some
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	survenue (attribut)	congénital	false	Inferred relationship	Some	3
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	3
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	3
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Blister	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Epidermolysis	false	Inferred relationship	Some	2
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Keratolysis	false	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	true	Inferred relationship	Some	1
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	Connective tissue	false	Inferred relationship	Some
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	Connective tissue structure	false	Inferred relationship	Some
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	appareil locomoteur	false	Inferred relationship	Some
Congenital junctional epidermolysis bullosa	morphologie associée (attribut)	Epidermolysis	false	Inferred relationship	Some	8
Congenital junctional epidermolysis bullosa	survenue (attribut)	congénital	false	Inferred relationship	Some
Congenital junctional epidermolysis bullosa	localisation d'une constatation (attribut)	structure de la peau	false	Inferred relationship	Some	8

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome (disorder)	est un(e) (attribut)	True	Congenital junctional epidermolysis bullosa	Inferred relationship	Some
Laryngo-onycho-cutaneous syndrome (disorder)	est un(e) (attribut)	True	Congenital junctional epidermolysis bullosa	Inferred relationship	Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
132485010	Congenital junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
132486011	Epidermolysis bullosa, junctional Herlitz-Pearson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
132487019	Epidermolysis bullosa hereditaria letalis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820951013	Congenital junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
998151000241113	épidermolyse bulleuse jonctionnelle congénitale (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
998161000241111	épidermolyse bulleuse jonctionnelle congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)