1230026002: letale acantholytische erosieve aandoening (aandoening)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\...
• \Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\...
• \Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive 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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive 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\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive 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\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive 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\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive 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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive 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\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive 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\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive 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\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive 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\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive 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\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive 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\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive 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\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \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\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \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\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Developmental disorder\Developmental hereditary disorder\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Autosomal recessive epidermolysis bullosa simplex\Lethal acantholytic erosive disorder
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Epidermolysis bullosa simplex\Suprabasal epidermolysis bullosa simplex (disorder)\Lethal acantholytic erosive disorder

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-May 2022. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5066475013	Lethal acantholytic erosive disorder	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066476014	Lethal acantholytic erosive disorder (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5066479019	Lethal acantholytic epidermolysis bullosa	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
13606791000146112	letale acantholytische erosieve aandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13606801000146111	letale acantholytische epidermolysis bullosa	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13606811000146113	letale acantholytische erosieve aandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
13606821000146115	acantholytische epidermolysis bullosa letalis	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5066477017	A suprabasal subtype of epidermolysis bullosa simplex characterized by generalized oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5066478010	A suprabasal subtype of epidermolysis bullosa simplex characterised by generalised oozing erosions, usually in the absence of blisters. Onset of the disease is at birth. Extracutaneous involvement is always present, involving erosions of the soft tissues of the oral cavity and gastrointestinal, genitourinary and respiratory tract abnormalities. The disease is due to mutations in the DSP (6p24) gene encoding desmoplakin. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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