67144006: Epidermolysis bullosa simplex (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\Epidermolysis bullosa simplex

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

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

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

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

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

2002131000005115 Epidermolysis bullosa simplex da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Epidermolysis bullosa simplex	Is a	Epidermolysis bullosa	true	Inferred relationship	Some
Epidermolysis bullosa simplex	Associated morphology	Epidermolysis	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Connective tissue (substance)	false	Inferred relationship	Some
Epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Some
Epidermolysis bullosa simplex	Finding site	Structure of musculoskeletal system (body structure)	false	Inferred relationship	Some
Epidermolysis bullosa simplex	Associated morphology	Keratolysis	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Associated morphology	A fluid-filled, raised, often translucent lesion, greater than 1 cm in diameter	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Connective tissue structure	false	Inferred relationship	Some
Epidermolysis bullosa simplex	Associated morphology	kongenit anomali	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Skin structure	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	2
Epidermolysis bullosa simplex	Occurrence	Congenital	false	Inferred relationship	Some	3
Epidermolysis bullosa simplex	Associated morphology	dysgenese	false	Inferred relationship	Some	3
Epidermolysis bullosa simplex	Finding site	Skin structure	false	Inferred relationship	Some	3
Epidermolysis bullosa simplex	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Epidermolysis bullosa simplex	Occurrence	Congenital	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epidermolysis bullosa simplex with hypodontia	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex herpetiformis	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex with mottled pigmentation	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis simplex superficialis	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Ukompliceret bulløs epidermolyse med neuromuskulær sygdom	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Weber-Cockayne syndrome	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Ukompliceret bulløs epidermolyse af hænder og fødder	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Generalized epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Generalized epidermolysis bullosa simplex	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Autosomal dominant epidermolysis bullosa simplex (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Epidermolysis bullosa simplex due to plakophilin deficiency (EBS-PD) is a suprabasal subtype of epidermolysis bullosa simplex characterized by generalized superficial erosions and less commonly blistering.	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
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	Some
Basal epidermolysis bullosa simplex (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
Suprabasal epidermolysis bullosa simplex (disorder)	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some
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	Some
A rare hereditary basal epidermolysis bullosa simplex characterized by mild, predominantly acral, trauma-induced skin fragility, resulting in blisters. Blisters mostly affect the feet, including the dorsal side, and are often several centimeters big. There is evidence the disease is caused by homozygous mutation in the DST (BPAG1) gene on chromosome 6p12.	Is a	False	Epidermolysis bullosa simplex	Inferred relationship	Some
Autosomal recessive epidermolysis bullosa simplex	Is a	True	Epidermolysis bullosa simplex	Inferred relationship	Some

This concept is not in any reference sets

Back to Start

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
2002131000005115	Epidermolysis bullosa simplex	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)