763213001: syndrome de surdité-ptosis-anomalies squelettiques (trouble)

• SNOMED CT Concept\constatation clinique\...
• \Skin AND/OR mucosa finding (finding)\lésion de la peau ou d'une muqueuse\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Skin AND/OR mucosa finding (finding)\Skin finding\affection de la peau (trouble)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Finding of dentition\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Digestive system finding (finding)\maladie de l'appareil digestif\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation générale à propos des tissus mous\Skin finding\affection de la peau (trouble)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of mouth region (finding)\Oral lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Finding of dentition\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Finding of head region\Finding of mouth region (finding)\Oral cavity finding\Tooth finding\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Finding of head region\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Finding of head region\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\Skin finding\constatation à propos de la pilosité\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Integumentary system finding\Skin finding\affection de la peau (trouble)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Disorder of embryonic structure (disorder)\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Hereditary disorder of the integument\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\troubles tégumentaires\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection d'un système corporel\maladie de l'appareil digestif\Disorder of digestive organ (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection de la tête\maladie de la cavité buccale\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection de la tête\affection de la mâchoire\Disorder of teeth AND/OR supporting structures (disorder)\Tooth disorder\Hereditary disorder of tooth\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\affection de la tête\affection de la mâchoire\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Disorder of soft tissue\lésion de tissu mou\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Disorder of skin appendage\trouble de la pilosité\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\Disorder of soft tissue\affection de la peau et/ou du tissu sous-cutané\affection de la peau (trouble)\Skin lesion\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Malformation of teeth (disorder)\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Disorder of tooth development (disorder)\Malformation of tooth (disorder)\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital ectodermal defect\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital abnormality of oral cavity\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of digestive system\Congenital anomaly of digestive organ\Congenital anomaly of tooth (disorder)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \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)\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Genodermatosis\Ectodermal dysplasia\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Ectodermal dysplasia with hair-tooth defects\Conductive deafness, ptosis, skeletal anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
1008791000172119	syndrome de Jackson-Barr	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3638186014	Jackson Barr syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3638187017	Conductive deafness, ptosis, skeletal anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3638188010	Conductive deafness, ptosis, skeletal anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
765661000241115	syndrome de surdité-ptosis-anomalies squelettiques (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
940251000172116	syndrome de surdité-ptosis-anomalies squelettiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3638189019	A rare genetic ectodermal dysplasia syndrome with characteristics of conductive hearing loss due to atresia of the external auditory canal and the middle ear complicated by chronic infection, ptosis and skeletal anomalies (internal rotation of hips, dislocation of the radial heads and fifth finger clinodactyly). In addition, a thin, pinched nose, delayed hair growth and dysplastic teeth are associated. There have been no further descriptions in the literature since 1978.	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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