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

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\RAB18, member RAS oncogene family deficiency

\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
\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
\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
\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
\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
\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
\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
\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
\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

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\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
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency

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

\Finding of brain\Disorder of brain\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disorder of head\Disorder of brain\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\RAB18, member RAS oncogene family deficiency
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\RAB18, member RAS oncogene family deficiency
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\RAB18, member RAS oncogene family deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\RAB18, member RAS oncogene family deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of reproductive system\Reproductive system hereditary disorder\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency
\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
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\RAB18, member RAS oncogene family deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\RAB18, member RAS oncogene family deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\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
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\RAB18, member RAS oncogene family deficiency

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

Descriptions:

Id Description Lang Type Status Case? Module

3717759014 RAB18, member RAS oncogene family deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

3717760016 RAB18, member RAS oncogene family deficiency (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

3717761017 RAB18 deficiency en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
RAB18, member RAS oncogene family deficiency	Is a	Hereditary disorder of the visual system	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
RAB18, member RAS oncogene family deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
RAB18, member RAS oncogene family deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
RAB18, member RAS oncogene family deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
RAB18, member RAS oncogene family deficiency	Is a	Congenital anomaly of eye	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	1
RAB18, member RAS oncogene family deficiency	Finding site	Structure of anatomical reproductive system	true	Inferred relationship	Existential restriction modifier	2
RAB18, member RAS oncogene family deficiency	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
RAB18, member RAS oncogene family deficiency	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
RAB18, member RAS oncogene family deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
RAB18, member RAS oncogene family deficiency	Finding site	Brain structure	true	Inferred relationship	Existential restriction modifier	3
RAB18, member RAS oncogene family deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
RAB18, member RAS oncogene family deficiency	Is a	Congenital anomaly of brain	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
RAB18, member RAS oncogene family deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
RAB18, member RAS oncogene family deficiency	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	4
RAB18, member RAS oncogene family deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
RAB18, member RAS oncogene family deficiency	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
RAB18, member RAS oncogene family deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Warburg micro syndrome	Is a	True	RAB18, member RAS oncogene family deficiency	Inferred relationship	Existential restriction modifier
Congenital cataract with intellectual disability and hypogonadotropic hypogonadism syndrome	Is a	True	RAB18, member RAS oncogene family deficiency	Inferred relationship	Existential restriction modifier

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3717759014	RAB18, member RAS oncogene family deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3717760016	RAB18, member RAS oncogene family deficiency (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
3717761017	RAB18 deficiency	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module