Aphalangy and syndactyly with microcephaly syndrome 720498007
SNOMED CT code
| SNOMED code | 720498007 |
|---|---|
| name | Aphalangy and syndactyly with microcephaly syndrome |
| status | active |
| date introduced | 2017-01-31 |
| fully specified name(s) | Aphalangy and syndactyly with microcephaly syndrome (disorder) |
| synonyms | Aphalangy and syndactyly with microcephaly syndrome |
| attributes - group3 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Head structure 69536005 |
| Associated morphology | Congenital smallness 41086002 |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Pathological process | Pathological developmental process 308490002 |
| Finding site | Digit structure 82680008 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Absence 418560003 |
| attributes - group1 | |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| Associated morphology | Congenital abnormal fusion 37764001 |
| Finding site | Digit structure 82680008 |
| attributes - group4 | |
| Has interpretation | Below reference range 281300000 |
| Interprets | Birth head circumference 169876006 |
| parents | |
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal dominant hereditary disorder 11164009 Aphalangy and syndactyly with microcephaly syndrome 720498007 SNOMED CT Concept 138875005 Clinical finding 404684003 Body measurement finding 365605003 Finding of head circumference 301338002 Microcephaly 1148757008 Congenital microcephaly 1148758003 Aphalangy and syndactyly with microcephaly syndrome 720498007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Adactyly 275348004 Aphalangy and syndactyly with microcephaly syndrome 720498007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Aphalangy and syndactyly with microcephaly syndrome 720498007 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of limb structure 302293008 Disorder of limb 128605003 Disorder of digit 128597007 Congenital anomaly of digit 403855001 Syndactyly 373413006 Aphalangy and syndactyly with microcephaly syndrome 720498007 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Multiple system malformation syndrome 82354003 Multiple malformation syndrome with limb defect as major feature 41443008 Aphalangy and syndactyly with microcephaly syndrome 720498007 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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