FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008
SNOMED CT code
| SNOMED code | 774070008 |
|---|---|
| name | FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome |
| status | active |
| date introduced | 2019-01-31 |
| fully specified name(s) | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) |
| synonyms |
|
| attributes - group1 | |
| Associated morphology | Congenital abnormal fusion 37764001 |
| Finding site | Digit structure 82680008 |
| Occurrence | Congenital 255399007 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Finding site | Central nervous system structure 21483005 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| Occurrence | Congenital 255399007 |
| attributes - group3 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| 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 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 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 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 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 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 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 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 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 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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