776204008: Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Body measurement finding\Weight finding\High body weight (finding)\Obese (finding)\Obesity (disorder)\...
• \Genetic obesity disorder (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Obesity by fat distribution pattern (disorder)\Central obesity\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Genetic intellectual disability\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Genetic obesity disorder (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Obesity (disorder)\Genetic obesity disorder (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Obesity (disorder)\Obesity by fat distribution pattern (disorder)\Central obesity\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of endocrine system\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Lesion of eye (disorder)\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital ocular coloboma (disorder)\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Microphthalmos\Microphthalmos co-occurrent with congenital ocular coloboma (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of genital organs (disorder)\Gonadal dysgenesis\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of endocrine gland\Congenital anomaly of endocrine gonad (disorder)\Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3736335017	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3736336016	Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5405520015	A rare syndromic microphthalmia characterized by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405521016	A rare syndromic microphthalmia characterised by bilateral, usually asymmetrical, microphthalmia associated typically with a unilateral coloboma, truncal obesity, borderline to mild intellectual disability, hypogenitalism and, more variably, nystagmus, cataracts and developmental delay.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start