Lethal brain and heart developmental defects syndrome 1229876001
SNOMED CT code
| SNOMED code | 1229876001 |
|---|---|
| name | Lethal brain and heart developmental defects syndrome |
| status | active |
| date introduced | 2022-05-31 |
| fully specified name(s) | Lethal brain and heart developmental defects syndrome (disorder) |
| synonyms | Lethal brain and heart developmental defects syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Heart structure 80891009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group2 | |
| Occurrence | Congenital 255399007 |
| Finding site | Face structure 89545001 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| attributes - group3 | |
| Occurrence | Congenital 255399007 |
| Finding site | Cerebellar structure 113305005 |
| Associated morphology | Hypoplasia 55199003 |
| Pathological process | Pathological developmental process 308490002 |
| parents |
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| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Congenital heart disease 13213009 Lethal brain and heart developmental defects syndrome 1229876001 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 Lethal brain and heart developmental defects syndrome 1229876001 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Lethal brain and heart developmental defects syndrome 1229876001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Lethal brain and heart developmental defects syndrome 1229876001 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 Lethal brain and heart developmental defects syndrome 1229876001 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 Lethal brain and heart developmental defects syndrome 1229876001 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Lethal brain and heart developmental defects syndrome 1229876001 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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