Oculocerebrofacial syndrome Kaufman type 722056009
SNOMED CT code
| SNOMED code | 722056009 |
|---|---|
| name | Oculocerebrofacial syndrome Kaufman type |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Oculocerebrofacial syndrome Kaufman type (disorder) |
| synonyms |
|
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group2 | |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Eye structure 81745001 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Head structure 69536005 |
| Associated morphology | Congenital smallness 41086002 |
| Occurrence | Congenital 255399007 |
| attributes - group4 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| attributes - group5 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group6 | |
| 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 Oculocerebrofacial syndrome Kaufman type 722056009 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Oculocerebrofacial syndrome Kaufman type 722056009 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 Oculocerebrofacial syndrome Kaufman type 722056009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Oculocerebrofacial syndrome Kaufman type 722056009 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Oculocerebrofacial syndrome Kaufman type 722056009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Disorder of head 118934005 Disorder of face 118930001 Congenital anomaly of face 398302004 Multiple malformation syndrome with facial defects as major feature 65094009 Oculocerebrofacial syndrome Kaufman type 722056009 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Oculocerebrofacial syndrome Kaufman type 722056009 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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