254180002: Epidermolysis bullosa simplex with mottled pigmentation (disorder)

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

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

\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)

\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\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 (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\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 (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Epidermolysis bullosa simplex with mottled pigmentation (disorder)

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 simplex with mottled pigmentation (disorder)	Is a	Epidermolysis bullosa simplex	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378369016	Epidermolysis bullosa simplex with mottled pigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378370015	Simple epidermolysis bullosa with mottled pigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645035011	Epidermolysis bullosa simplex with mottled pigmentation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378369016	Epidermolysis bullosa simplex with mottled pigmentation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378369016	Epidermolysis bullosa simplex with mottled pigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378370015	Simple epidermolysis bullosa with mottled pigmentation	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378370015	Simple epidermolysis bullosa with mottled pigmentation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
645035011	Epidermolysis bullosa simplex with mottled pigmentation (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
645035011	Epidermolysis bullosa simplex with mottled pigmentation (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3428681001000117	Epidermolysis bullosa simplex mit gesprenkelter Pigmentierung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
944761000172118	EBS-MP - epidermolysis bullosa simplex with mottled pigmentation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
965521000172114	epidermolyse bulleuse simple avec pigmentation mouchetée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
944761000172118	EBS-MP - epidermolysis bullosa simplex with mottled pigmentation	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
965521000172114	epidermolyse bulleuse simple avec pigmentation mouchetée	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3428681001000117	Epidermolysis bullosa simplex mit gesprenkelter Pigmentierung	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module