733605002: syndrome de dysgénésie gonadique-anomalies multiples (trouble)

SNOMED CT Concept\constatation clinique\...

\Digestive system finding (finding)\Finding of mouth region (finding)\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Digestive system finding (finding)\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Digestive system finding (finding)\maladie de l'appareil digestif\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

\constatation générale à propos des tissus mous\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation générale à propos des tissus mous\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\constatation générale à propos des tissus mous\Disorder of soft tissue\lésion de tissu mou\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\...

\Finding of head region\Orofacial cleft (disorder)\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Orofacial cleft (disorder)\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of mouth region (finding)\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of mouth region (finding)\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of mouth region (finding)\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of mouth region (finding)\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of face\Lesion of face (finding)\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of face\constatation à propos d'une lèvre\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of face\constatation à propos d'une lèvre\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Finding of face\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Finding of head region\Palate finding\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

\affection de la tête\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection d'un système corporel\maladie de l'appareil digestif\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Disorder of palate (disorder)\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\maladie de la cavité buccale\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\maladie de la cavité buccale\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Disorder of face (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues (disorder)\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\Disorder of soft tissue\lésion de tissu mou\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Craniofacial cleft (disorder)\Orofacial cleft (disorder)\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of palate\fente palatine\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies 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 anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3500044015 XY type gonadal dysgenesis with associated anomalies syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500045019 XY type gonadal dysgenesis with associated anomalies syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3500046018 Gonadal dysgenesis XY type with associated anomalies en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

763351000241111 syndrome de dysgénésie gonadique-anomalies multiples (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

876991000172111 syndrome de dysgénésie gonadique-anomalies multiples fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3500043014 An association syndrome described only once in two sisters. They had a 46,XY karyotype, cleft lip and palate, preauricular pits and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal structure	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	localisation d'une constatation (attribut)	Palatal structure	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	localisation d'une constatation (attribut)	structure osseuse de la tête (structure corporelle)	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Cleft palate with cleft lip	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Pure gonadal dysgenesis 46,XY	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Digestive system hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	Reproductive system hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	5
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	localisation d'une constatation (attribut)	lèvre de la bouche (structure corporelle)	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	localisation d'une constatation (attribut)	Gonadal structure	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	morphologie associée (attribut)	Developmental failure of fusion (morphologic abnormality)	false	Inferred relationship	Some	5
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	localisation d'une constatation (attribut)	Palatal structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3500044015	XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500045019	XY type gonadal dysgenesis with associated anomalies syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3500046018	Gonadal dysgenesis XY type with associated anomalies	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
763351000241111	syndrome de dysgénésie gonadique-anomalies multiples (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
876991000172111	syndrome de dysgénésie gonadique-anomalies multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3500043014	An association syndrome described only once in two sisters. They had a 46,XY karyotype, cleft lip and palate, preauricular pits and a 'squashed down' appearance because of a short columella and small nares. Other anomalies included broad hands and feet, and a hypermuscular appearance. Cardiac, renal, musculoskeletal and ectodermal anomalies were also present. Ectodermal defects included 'punched out scalp defects' and unusual positioning of hair whorls. They also had short stature, streak gonads, and mild developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core