48528004: Recessive dystrophic epidermolysis bullosa (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\...

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

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

\General finding of soft tissue\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Recessive dystrophic epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Degenerative skin disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Dystrophic epidermolysis bullosa\Recessive dystrophic epidermolysis bullosa

Status: current, Defined. 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 Case insensitive SNOMED CT core

80859012 Recessive dystrophic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core

80860019 Dysplastic epidermolysis bullosa dystrophica en Synonym Active Case insensitive SNOMED CT core

80861015 Polydysplastic epidermolysis bullosa en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Is a	Epidermolysis bullosa	false	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	3
Recessive dystrophic epidermolysis bullosa	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	3
Recessive dystrophic epidermolysis bullosa	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Is a	Dystrophic epidermolysis bullosa	true	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Is a	Hereditary disorder of the integument	false	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Associated morphology	Epidermolysis	false	Inferred relationship	Some	2
Recessive dystrophic epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Associated morphology	Blister	false	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Progressive recessive dystrophic epidermolysis bullosa	Is a	False	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some
Progressive recessive dystrophic epidermolysis bullosa	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some
Severe generalised recessive dystrophic epidermolysis bullosa	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some
Centripetalis recessive dystrophic epidermolysis bullosa	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa non-Hallopeau Siemens type	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some
Localised recessive dystrophic epidermolysis bullosa	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some
Generalised recessive dystrophic epidermolysis bullosa mitis	Is a	True	Recessive dystrophic epidermolysis bullosa	Inferred relationship	Some

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
786106013	Recessive dystrophic epidermolysis bullosa (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
80859012	Recessive dystrophic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core
80860019	Dysplastic epidermolysis bullosa dystrophica	en	Synonym	Active	Case insensitive	SNOMED CT core
80861015	Polydysplastic epidermolysis bullosa	en	Synonym	Active	Case insensitive	SNOMED CT core