79855003: Congenital junctional epidermolysis bullosa (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)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa

\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa

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

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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa\Congenital junctional 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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional 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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional 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 (disorder)\Junctional epidermolysis bullosa\Congenital junctional 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 (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional 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 (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\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)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional epidermolysis bullosa
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Congenital junctional 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
Congenital junctional epidermolysis bullosa	Is a	Junctional epidermolysis bullosa	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Associated morphology	Blister (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Associated morphology	Keratolysis	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Connective tissue	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Finding site	Connective tissue structure (body structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Finding site	Structure of musculoskeletal system	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Associated morphology	Epidermolysis (morphologic abnormality)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Congenital junctional epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	8
Congenital junctional epidermolysis bullosa	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Is a	Junctional epidermolysis bullosa	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital junctional epidermolysis bullosa	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital junctional epidermolysis bullosa	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital junctional epidermolysis bullosa	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Congenital junctional epidermolysis bullosa	Associated morphology	Epidermolysis (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital junctional epidermolysis bullosa	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital junctional epidermolysis bullosa-pyloric atresia syndrome	Is a	True	Congenital junctional epidermolysis bullosa	Inferred relationship	Existential restriction modifier (core metadata concept)
Laryngo-onycho-cutaneous syndrome (disorder)	Is a	True	Congenital junctional epidermolysis bullosa	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
132485010	Congenital junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
132486011	Epidermolysis bullosa, junctional Herlitz-Pearson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
132487019	Epidermolysis bullosa hereditaria letalis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820951013	Congenital junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
132485010	Congenital junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
132485010	Congenital junctional epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
132486011	Epidermolysis bullosa, junctional Herlitz-Pearson type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
132487019	Epidermolysis bullosa hereditaria letalis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
132487019	Epidermolysis bullosa hereditaria letalis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
820951013	Congenital junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
820951013	Congenital junctional epidermolysis bullosa (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
998161000241111	épidermolyse bulleuse jonctionnelle congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
998161000241111	épidermolyse bulleuse jonctionnelle congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module