Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008
SNOMED CT code
| SNOMED code | 733417008 |
|---|---|
| name | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
| status | active |
| date introduced | 2017-07-31 |
| fully specified name(s) | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome (disorder) |
| synonyms | Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome |
| attributes - group6 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Cystic dilatation 125269003 |
| Finding site | Infratentorial brain structure 21031007 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Visual structure 49549006 |
| attributes - group7 | |
| Pathological process | Pathological developmental process 308490002 |
| Associated morphology | Cystic dilatation 125269003 |
| Finding site | Fourth ventricle structure 35918002 |
| Occurrence | Congenital 255399007 |
| attributes - group5 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Cerebellar vermis structure 58501004 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Hypoplasia 55199003 |
| attributes - group4 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Congenital malrotation 48641006 |
| Finding site | Cerebellar vermis structure 58501004 |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| attributes - group8 | |
| Has interpretation | Above reference range 281302008 |
| Interprets | Head circumference 363812007 |
| attributes - group1 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group9 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| parents |
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| 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 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Macrocephaly 1145403003 Congenital macrocephaly 1145402008 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 SNOMED CT Concept 138875005 Clinical finding 404684003 Neurological lesion 299735001 Lesion of brain 301766008 Cystic malformation of posterior fossa 35111000119109 Dandy-Walker syndrome 14447001 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Disorder of vision 95677002 Disorder of refraction AND/OR accommodation 72128008 Disorder of refraction 39021009 Myopia 57190000 Severe myopia 34187009 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 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 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 SNOMED CT Concept 138875005 Clinical finding 404684003 Eye / vision finding 118235002 Visual system disorder 128127008 Hereditary disorder of the visual system 363343008 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 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 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Facial dysmorphism, macrocephaly, myopia, Dandy-Walker malformation syndrome 733417008 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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