RAB18 deficiency 772225005
SNOMED CT code
SNOMED code | 772225005 |
---|---|
name | RAB18 deficiency |
status | active |
date introduced | 2019-01-31 |
fully specified name(s) | RAB18, member RAS oncogene family deficiency (disorder) |
synonyms |
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attributes - group1 | |
Occurrence | Congenital 255399007 |
Associated morphology | Morphologically abnormal structure 49755003 |
Pathological process | Pathological developmental process 308490002 |
Finding site | Eye structure 81745001 |
attributes - group2 | |
Pathological process | Pathological developmental process 308490002 |
Finding site | Reproductive anatomical structure 245500007 |
Occurrence | Congenital 255399007 |
Associated morphology | Morphologically abnormal structure 49755003 |
attributes - group3 | |
Pathological process | Pathological developmental process 308490002 |
Associated morphology | Morphologically abnormal structure 49755003 |
Finding site | Brain structure 12738006 |
Occurrence | Congenital 255399007 |
attributes - group4 | |
Interprets | Intellectual ability 247573007 |
Has interpretation | Impaired 260379002 |
attributes - group5 | |
Interprets | Adaptation behavior 406208005 |
Has interpretation | Impaired 260379002 |
parents |
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children | |
hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Mental state, behavior and/or psychosocial function finding 384821006 Behavior finding 844005 Intellectual disability 110359009 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Congenital anomaly of visual system 127329003 Congenital anomaly of eye 19416009 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of the genitourinary system 42030000 Genitourinary congenital anomalies 287085006 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Disorder of nervous system 118940003 Hereditary disorder of nervous system 363235000 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of body system 362965005 Hereditary disorder by system 363137000 Reproductive system hereditary disorder 363290007 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Disorder of the central nervous system 23853001 Congenital anomaly of central nervous system 128124001 Congenital anomaly of brain 57148006 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 RAB18 deficiency 772225005 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 RAB18 deficiency 772225005 |
ancestors | sorted most to least specific
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cpt crosswalks |
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