773692000: syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\...
• \Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \constatation générale à propos des tissus mous\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection dégénérative\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive tract (disorder)\Disorder of upper digestive tract (disorder)\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Disorder of hard tissues of teeth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Degenerative skin disorder (disorder)\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital malformation of upper alimentary tract\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Amelogenesis imperfecta\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Epidermolysis bullosa\Junctional epidermolysis bullosa (disorder)\Localised junctional epidermolysis bullosa\Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3725802015	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725804019	Late-onset localized junctional epidermolysis bullosa, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3725805018	Late-onset localised junctional epidermolysis bullosa, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
771891000241119	syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
954841000172112	syndrome d'épidermolyse bulleuse jonctionnelle localisée à début tardif-déficience intellectuelle	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3725801010	A rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3725803013	A rare junctional epidermolysis bullosa subtype characterised by late-onset blistering surrounded by erythema and localised on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognathism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.	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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