Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002
SNOMED CT code
| SNOMED code | 1172839002 |
|---|---|
| name | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome |
| status | active |
| date introduced | 2021-09-30 |
| fully specified name(s) | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome (disorder) |
| synonyms | Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| attributes - group2 | |
| Finding site | Nervous system structure 25087005 |
| attributes - group3 | |
| Finding site | Structure of myocardium of left ventricle 49848007 |
| attributes - group4 | |
| Due to | Mitochondrial cytopathy 240096000 |
| parents |
|
| hierarchies | a selection of possible paths SNOMED CT Concept 138875005Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Inherited metabolic disorder of nervous system 128190004 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Disorder of pyruvate metabolism and mitochondrial respiratory chain 237981000 Disorder of mitochondrial respiratory chain complexes 237986005 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Finding of left side of heart 471511000124109 Finding of left ventricle 301096006 Disorder of left cardiac ventricle 415993000 Left ventricular myocardial noncompaction cardiomyopathy 447935001 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Cardiac complication 40172005 Mitochondrial cardiomyopathy 472315005 Lethal left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002 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 left ventricular non-compaction, seizures, hypotonia, cataract, developmental delay syndrome 1172839002 |
| ancestors | sorted most to least specific
|
| cpt crosswalks | |
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