724225008: Junctional epidermolysis bullosa non-Herlitz type (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\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (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)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Epidermolysis bullosa (disorder)\Junctional epidermolysis bullosa\Junctional epidermolysis bullosa non-Herlitz type (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3432831012	Junctional epidermolysis bullosa non-Herlitz type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3432832017	Junctional epidermolysis bullosa non-Herlitz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3432831012	Junctional epidermolysis bullosa non-Herlitz type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3432832017	Junctional epidermolysis bullosa non-Herlitz type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3432833010	A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalized subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localized subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3432834016	A subtype of junctional epidermolysis bullosa (JEB) with characteristics of skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia. Postinflammatory hypopigmentation or dyspigmentation may be striking in some patients. A generalised subtype with atrophic scarring and more extensive extracutaneous involvement has been described as well as a milder localised subtype. Caused by mutations in the COL17A1 (10q24.3) and LAMA3 (18q11.2), LAMB3 (1q32) and LAMC2 (1q25-q31) genes. The condition follows an autosomal recessive pattern of inheritance.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
958311000172112	EBJ-nH - epidermolyse bulleuse jonctionnelle type non-Herlitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996761000172119	epidermolyse bulleuse jonctionnelle type non-Herlitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
958311000172112	EBJ-nH - epidermolyse bulleuse jonctionnelle type non-Herlitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
996761000172119	epidermolyse bulleuse jonctionnelle type non-Herlitz	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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