61003004: Epidermolysis bullosa (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding (finding)\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Epidermolysis bullosa

\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa

\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\General finding of soft tissue\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\Integumentary system finding\Skin finding (finding)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis (disorder)\Epidermolysis bullosa
\Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis (disorder)\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
Epidermolysis bullosa	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Epidermolysis bullosa	Is a	Genodermatosis (disorder)	true	Inferred relationship	Some
Epidermolysis bullosa	Is a	Skin lesion (disorder)	false	Inferred relationship	Some
Epidermolysis bullosa	Is a	Metabolic disease of collagen	false	Inferred relationship	Some
Epidermolysis bullosa	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Epidermolysis bullosa	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Epidermolysis bullosa	Associated morphology	A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter	false	Inferred relationship	Some	1
Epidermolysis bullosa	Finding site	Connective tissue structure	false	Inferred relationship	Some
Epidermolysis bullosa	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some
Epidermolysis bullosa	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Epidermolysis bullosa	Is a	Bullous dermatosis	false	Inferred relationship	Some
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa	Is a	Degenerative disorder	false	Inferred relationship	Some
Epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Some	1
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Some	3
Epidermolysis bullosa	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Some	3
Epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Some	1
Epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epidermolysis bullosa	Is a	Degenerative skin disorder (disorder)	true	Inferred relationship	Some
Epidermolysis bullosa	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dystrophic epidermolysis bullosa	Is a	True	Epidermolysis bullosa	Inferred relationship	Some
Acquired epidermolysis bullosa	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Recessive dystrophic epidermolysis bullosa	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa	Inferred relationship	Some
Junctional epidermolysis bullosa	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Bullous eruption of hand	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Progressive recessive dystrophic epidermolysis bullosa (disorder)	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
[X]Other epidermolysis bullosa	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Junctional epidermolysis bullosa (disorder)	Is a	True	Epidermolysis bullosa	Inferred relationship	Some
Hereditær bulløs epidermolyse	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Aplasia cutis congenita in association with epidermolysis bullosa (Type 6) (disorder)	Associated with	True	Epidermolysis bullosa	Inferred relationship	Some	2
Conjunctivitis associated with epidermolysis bullosa (disorder)	Is a	False	Epidermolysis bullosa	Inferred relationship	Some
Conjunctivitis associated with epidermolysis bullosa (disorder)	Associated with	True	Epidermolysis bullosa	Inferred relationship	Some	2
Nail dystrophy due to epidermolysis bullosa	Due to	True	Epidermolysis bullosa	Inferred relationship	Some	2
A rare inherited epidermolysis bullosa (EB) with characteristics of skin fragility and blistering at birth followed by development of photosensitivity and progressive poikilodermatous skin changes. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB, and dystrophic EB. The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to regress with age, becoming rare in adulthood. Caused by loss-of-function mutations in the kindlin-1 gene (FERMT1; 20p12.3). Transmission is autosomal recessive.	Is a	True	Epidermolysis bullosa	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
101373018	Epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101375013	Dermatitis bullosa hereditaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101376014	Fox disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
101377017	Keratolysis bullosa hereditaria	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101378010	Bullous recurrent eruption	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101379019	Acantholysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
101380016	Acanthosis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
498907017	EB - Epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
800018014	Epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core