67144006: Epidermolysis bullosa simplex (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

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

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

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\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
\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
\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
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\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
\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
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\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
\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
\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
\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
\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
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epidermolysis bullosa simplex with hypodontia	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex herpetiformis	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis simplex superficialis	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with neuromuscular disease	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Weber-Cockayne syndrome	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex of the hands AND/OR feet	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Generalized epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal dominant epidermolysis bullosa simplex (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare, inherited, epidermolysis bullosa simplex characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia that is usually fatal in infancy. Antenatally, pyloric atresia can manifest with polyhydramnios. If patients survive, they experience life-long skin fragility and nail dystrophy. Additional extracutaneous findings include failure to thrive, anemia, sepsis, intraoral blistering, enamel hypoplasia, urethral stenosis and urologic complications.	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Basal epidermolysis bullosa simplex (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Suprabasal epidermolysis bullosa simplex (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, generalized trauma-induced scale crusts and intermittent blistering, sometimes combined with erosions and bleeding, recovering with slight scarring and post-inflammatory hyperpigmentation. Clinical symptoms improve with age. There is evidence the disease can be caused by homozygous mutation in the EXPH5 gene on chromosome 11q22.	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex due to BP230 deficiency	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
111534011	Epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
806836018	Epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
111534011	Epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
111534011	Epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
500624018	Weber-Cockayne epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
806836018	Epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
806836018	Epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3409621001000116	Epidermolysis bullosa simplex	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
945471000172117	epidermolyse bulleuse simple	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985471000172113	EBS - epidermolyse bulleuse simple	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
945471000172117	epidermolyse bulleuse simple	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
985471000172113	EBS - epidermolyse bulleuse simple	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3409621001000116	Epidermolysis bullosa simplex	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module