733605002: XY type gonadal dysgenesis with associated anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Digestive system finding\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\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
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\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
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome

\General finding of soft tissue\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\General finding of soft tissue\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of mouth region\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of mouth region\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of face\Lip finding\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of face\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Finding of face\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Finding of head region\Palate finding\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome

\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disorder of head\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

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Digestive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Disorder of digestive tract\Disorder of upper digestive tract\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of digestive system\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\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
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\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
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of palate\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Oral lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disease of mouth\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of face\Lesion of face\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Disorder of face\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of head\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
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\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
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of soft tissue of head\Disorder of oral soft tissues\Disorder of lip\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Lesion of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Craniofacial cleft\Orofacial cleft\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of palate\Cleft palate\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\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
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Pure gonadal dysgenesis\Pure gonadal dysgenesis 46,XY\XY type gonadal dysgenesis with associated anomalies syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of digestive system\Congenital anomaly of digestive tract\Congenital anomaly of upper digestive tract\Congenital anomaly of mouth\Congenital anomaly of lip\Cleft lip\Cleft palate with cleft lip\XY type gonadal dysgenesis with associated anomalies syndrome

Status: current, Primitive. 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 Case sensitive SNOMED CT core

3500045019 XY type gonadal dysgenesis with associated anomalies syndrome en Synonym Active Case sensitive SNOMED CT core

3500046018 Gonadal dysgenesis XY type with associated anomalies en Synonym Active Initial character case insensitive SNOMED CT core

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 Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
XY type gonadal dysgenesis with associated anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome	Finding site	Gonadal structure	true	Inferred relationship	Some	2
XY type gonadal dysgenesis with associated anomalies syndrome	Finding site	Palatal structure	true	Inferred relationship	Some	1
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Hereditary disorder of musculoskeletal system	false	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome	Finding site	Bone structure of head	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Cleft palate with cleft lip	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Pure gonadal dysgenesis 46,XY	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Digestive system hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome	Associated morphology	Developmental failure of fusion	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
XY type gonadal dysgenesis with associated anomalies syndrome	Finding site	Lip structure	true	Inferred relationship	Some	3
XY type gonadal dysgenesis with associated anomalies syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome	Finding site	Gonadal structure	false	Inferred relationship	Some	4
XY type gonadal dysgenesis with associated anomalies syndrome	Associated morphology	Developmental failure of fusion	false	Inferred relationship	Some	5
XY type gonadal dysgenesis with associated anomalies syndrome	Finding site	Palatal structure	false	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Queensland allied health clinical finding reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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Id	Description	Lang	Type	Status	Case?	Module
3500044015	XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3500045019	XY type gonadal dysgenesis with associated anomalies syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3500046018	Gonadal dysgenesis XY type with associated anomalies	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
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	Case sensitive	SNOMED CT core