Short stature, developmental delay, congenital heart defect syndrome 1237512003
SNOMED CT code
| SNOMED code | 1237512003 |
|---|---|
| name | Short stature, developmental delay, congenital heart defect syndrome |
| status | active |
| date introduced | 2022-09-30 |
| fully specified name(s) | Short stature, developmental delay, congenital heart defect syndrome (disorder) |
| synonyms |
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| attributes - group5 | |
| Due to | Deficiency of transketolase 124251001 |
| attributes - group2 | |
| Interprets | Intellectual ability 247573007 |
| Has interpretation | Impaired 260379002 |
| attributes - group3 | |
| Interprets | Adaptation behavior 406208005 |
| Has interpretation | Impaired 260379002 |
| attributes - group4 | |
| Interprets | Body height measure 50373000 |
| Has interpretation | Below reference range 281300000 |
| attributes - group1 | |
| Occurrence | Congenital 255399007 |
| Finding site | Heart structure 80891009 |
| Associated morphology | Morphologically abnormal structure 49755003 |
| Pathological process | Pathological developmental process 308490002 |
| 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 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Structural disorder of heart 128599005 Congenital heart disease 13213009 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Finding of general physiological development 271616002 Disorder of stature 237834000 Short stature disorder 237836003 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Disorder of cardiovascular system 49601007 Cardiovascular system hereditary disorder 363005004 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Developmental hereditary disorder 363070008 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Developmental disorder 5294002 Congenital malformation 276654001 Congenital malformation syndrome 400038003 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Cardiovascular finding 106063007 Cardiac finding 301095005 Heart disease 56265001 Cardiac complication 40172005 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Metabolic disease 75934005 Disorder of carbohydrate metabolism 20957000 Pentose disorder 57507002 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Genetic disease 782964007 Hereditary disease 32895009 Autosomal hereditary disorder 1899006 Autosomal recessive hereditary disorder 85995004 Short stature, developmental delay, congenital heart defect syndrome 1237512003 SNOMED CT Concept 138875005 Clinical finding 404684003 Disease 64572001 Congenital disease 66091009 Inborn error of metabolism 86095007 Short stature, developmental delay, congenital heart defect syndrome 1237512003 |
| ancestors | sorted most to least specific
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| cpt crosswalks | |
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