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

SNOMED CT Concept\Clinical finding (finding)\...

\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)

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

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

\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)
\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)

\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)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
\Disorder of head (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)

\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\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\Mental disorder\Developmental mental disorder\Intellectual disability\RAB18, member RAS oncogene family deficiency (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\RAB18, member RAS oncogene family deficiency (disorder)
\Disease\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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
\Disease\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\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\RAB18, member RAS oncogene family deficiency (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\RAB18, member RAS oncogene family deficiency (disorder)
\Disease\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\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\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

4205111000052112 RAB18-brist sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Hereditary disorder of the visual system (disorder)	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
RAB18, member RAS oncogene family deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
RAB18, member RAS oncogene family deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Congenital anomaly of eye	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Finding site	Eye structure	true	Inferred relationship	Some	1
RAB18, member RAS oncogene family deficiency (disorder)	Finding site	Structure of anatomical reproductive system (body structure)	true	Inferred relationship	Some	2
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Genitourinary congenital anomalies	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
RAB18, member RAS oncogene family deficiency (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	3
RAB18, member RAS oncogene family deficiency (disorder)	Finding site	Brain structure	true	Inferred relationship	Some	3
RAB18, member RAS oncogene family deficiency (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
RAB18, member RAS oncogene family deficiency (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

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

This concept is not in any reference sets

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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
4205111000052112	RAB18-brist	sv	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)