48528004: Recessive dystrophic epidermolysis bullosa (disorder)

SNOMED CT Concept\constatation clinique\...

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

\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)

\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)

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

\Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\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\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (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\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\affection dégénérative\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\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\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (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\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\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\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (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\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2020. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

786106013 Recessive dystrophic epidermolysis bullosa (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

80859012 Recessive dystrophic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

80860019 Dysplastic epidermolysis bullosa dystrophica en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

80861015 Polydysplastic epidermolysis bullosa en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
épidermolyse bulleuse dystrophique évolutive autosomique récessive	est un(e) (attribut)	False	Recessive dystrophic epidermolysis bullosa (disorder)	Inferred relationship	Some
Progressive recessive dystrophic epidermolysis bullosa	est un(e) (attribut)	True	Recessive dystrophic epidermolysis bullosa (disorder)	Inferred relationship	Some
Severe generalized recessive dystrophic epidermolysis bullosa (disorder)	est un(e) (attribut)	True	Recessive dystrophic epidermolysis bullosa (disorder)	Inferred relationship	Some
Centripetalis recessive dystrophic epidermolysis bullosa (disorder)	est un(e) (attribut)	True	Recessive dystrophic epidermolysis bullosa (disorder)	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type (disorder)	est un(e) (attribut)	True	Recessive dystrophic epidermolysis bullosa (disorder)	Inferred relationship	Some
Localised recessive dystrophic epidermolysis bullosa	est un(e) (attribut)	True	Recessive dystrophic epidermolysis bullosa (disorder)	Inferred relationship	Some
Generalised recessive dystrophic epidermolysis bullosa mitis	est un(e) (attribut)	True	Recessive dystrophic epidermolysis bullosa (disorder)	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
786106013	Recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80859012	Recessive dystrophic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80860019	Dysplastic epidermolysis bullosa dystrophica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
80861015	Polydysplastic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core