722380003: Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

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

\Finding of brain\Encephalopathy\...

\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Limbic disorder\Disorder of hypothalamus\...

\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Cataract finding\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Crystalline lens finding\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Anterior segment finding\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of embryonic structure\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Degenerative disorder\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs\Gonadal dysgenesis\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Lesion of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Degenerative disorder of eye\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Cataract\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of anterior segment of eye\Disorder of lens\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Disorder of head\Encephalopathy\Limbic disorder\Disorder of hypothalamus\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital hypogonadotropic hypogonadism\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Anomalies of hypothalamus\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of anterior segment of eye\Congenital anomaly of lens\Congenital cataract\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism 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\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of endocrine gland\Congenital anomaly of pituitary gland\Congenital malformation of anterior pituitary\Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331761013 Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331762018 Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome en Synonym Active Case insensitive SNOMED CT core

3331763011 Martsolf syndrome en Synonym Active Case sensitive SNOMED CT core

3331764017 Syndrome with the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Mutations in the RAB3GAP2 gene have been identified in some patients. Transmission is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Structure of lens of eye	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Associated morphology	Cataract	false	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Associated morphology	Abnormally opaque structure	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Structure of distal part of pituitary	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Congenital malformation of anterior pituitary	true	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Congenital anomaly of endocrine gonad	true	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	RAB18, member RAS oncogene family deficiency	true	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	4
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	5
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Hypogonadotropic hypogonadism	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Congenital cataract	true	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Multiple system malformation syndrome	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Hereditary disorder of endocrine system	true	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Reproductive system hereditary disorder	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Hereditary disorder of the visual system	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Structure of distal part of pituitary	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Gonadal endocrine structure	false	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Associated morphology	Congenital cataract	false	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Structure of lens of eye	false	Inferred relationship	Some	3
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Congenital hypogonadotropic hypogonadism	true	Inferred relationship	Some
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Structure of distal part of pituitary	false	Inferred relationship	Some	2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Structure of distal part of pituitary	false	Inferred relationship	Some	1
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	2
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	Intellectual disability	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
3331761013	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331762018	Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3331763011	Martsolf syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3331764017	Syndrome with the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism. Less than 20 cases have been described in the literature so far. Besides the three main features of the syndrome, other anomalies have been reported in some of the affected patients including short stature, minor digital abnormalities, microcephaly, cardiomyopathy, heart failure, and mild facial dysmorphism (micrognathia, maxilla hypoplasia, low posterior hairline and large ears). Mutations in the RAB3GAP2 gene have been identified in some patients. Transmission is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core