772225005: RAB18, member RAS oncogene family deficiency (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Genetic intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Eye / vision finding\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system (disorder)\RAB18, member RAS oncogene family deficiency (disorder)
• \Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Genetic intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Genetic intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Genetic disease\Genetic intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system (disorder)\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system (disorder)\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \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\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Genetic intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency (disorder)

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
3717759014	RAB18, member RAS oncogene family deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3717760016	RAB18, member RAS oncogene family deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3717761017	RAB18 deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3717762012	RAB18 deficiency causes two disorders with similar signs and symptoms; Warburg micro syndrome and Martsolf syndrome. Both of these diseases are considered to be part of the same disease spectrum because of similar features and shared genetic cause. Manifestations include eye problems from birth including cataracts, microphthalmia and microcornea, intellectual disability, delayed development hypotonia, spasticity and joint contractures. Martsolf syndrome affects the same body systems as Warburg micro syndrome but is usually less severe. RAB18 deficiency is caused by mutations in the RAB3GAP1, RAB3GAP2, RAB18, or TBC1D20 gene.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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