1156849001: Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex

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

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Epidermolysis bullosa simplex\Autosomal recessive 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\Autosomal recessive epidermolysis bullosa simplex

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive epidermolysis bullosa simplex	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive epidermolysis bullosa simplex	Is a	Epidermolysis bullosa simplex	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Autosomal recessive epidermolysis bullosa simplex	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive epidermolysis bullosa simplex	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive epidermolysis bullosa simplex	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Autosomal recessive epidermolysis bullosa simplex	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Epidermolysis bullosa simplex due to BP230 deficiency	Is a	True	Autosomal recessive 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	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex with muscular dystrophy	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Keratin 14 related epidermolysis bullosa simplex (disorder)	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	Is a	True	Autosomal recessive 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	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal acantholytic erosive disorder	Is a	True	Autosomal recessive epidermolysis bullosa simplex	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal autosomal recessive epidermolysis bullosa simplex	Is a	True	Autosomal recessive 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
4576324010	Autosomal recessive epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576325011	Autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576324010	Autosomal recessive epidermolysis bullosa simplex	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4576325011	Autosomal recessive epidermolysis bullosa simplex (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5789041000241110	EBS (épidermolyse bulleuse simple) autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789051000241113	épidermolyse bulleuse simple autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789041000241110	EBS (épidermolyse bulleuse simple) autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5789051000241113	épidermolyse bulleuse simple autosomique récessive	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module