X-linked cerebral, cerebellar, coloboma syndrome 770604006
SNOMED CT code
| SNOMED code | 770604006 |
|---|---|
| name | X-linked cerebral, cerebellar, coloboma syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | X-linked cerebral, cerebellar, coloboma syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Developmental failure of fusion 371520008 |
| Finding site | Eye structure 81745001 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Agenesis 782173000 |
| Finding site | Entire corpus callosum 362354006 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Hypoplasia 55199003 |
| Finding site | Cerebellar vermis structure 58501004 |
| attributes - group4 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group5 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
|
| 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 X-linked cerebral, cerebellar, coloboma syndrome 770604006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Sex-linked hereditary disorder 82852009 X-linked hereditary disease 128430005 X-linked recessive hereditary disease 1162976004 X-linked cerebral, cerebellar, coloboma syndrome 770604006 SNOMED CT Concept 138875005 Clinical finding 404684003 Central nervous system finding 246556002 Finding of brain 299718000 Disorder of brain 81308009 Cerebellar disorder 223176004 Dysgenesis of the cerebellum 253171007 Congenital cerebellar hypoplasia 16026008 X-linked cerebral, cerebellar, coloboma syndrome 770604006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 X-linked cerebral, cerebellar, coloboma syndrome 770604006 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 X-linked cerebral, cerebellar, coloboma syndrome 770604006 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 X-linked cerebral, cerebellar, coloboma syndrome 770604006 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of head and neck region 118254002 Head finding 406122000 Finding of head region 298364001 Hemianencephaly 85641006 Aplasia of corpus callosum 204044008 Agenesis of corpus callosum 5102002 X-linked cerebral, cerebellar, coloboma syndrome 770604006 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 X-linked cerebral, cerebellar, coloboma syndrome 770604006 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 Coloboma of eye 93390002 X-linked cerebral, cerebellar, coloboma syndrome 770604006 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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