Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 5099583014 | Short stature, developmental delay, congenital heart defect syndrome | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 5099584015 | Short stature, developmental delay, congenital heart defect syndrome (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 5099588017 | TKT (transketolase) deficiency | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 5099586018 | A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). | en | Definition | Active | Case sensitive | SNOMED CT core |
| 5099587010 | A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Congenital malformation syndrome | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Cardiac complication | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Pentose disorder | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Is a | Inborn error of metabolism | true | Inferred relationship | Some | ||
| Short stature, developmental delay, congenital heart defect syndrome | Due to | Deficiency of transketolase | true | Inferred relationship | Some | 5 | |
| Short stature, developmental delay, congenital heart defect syndrome | Interprets | Intellectual ability | true | Inferred relationship | Some | 2 | |
| Short stature, developmental delay, congenital heart defect syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Short stature, developmental delay, congenital heart defect syndrome | Interprets | Adaptation behaviour | true | Inferred relationship | Some | 3 | |
| Short stature, developmental delay, congenital heart defect syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Short stature, developmental delay, congenital heart defect syndrome | Interprets | Body height measure | true | Inferred relationship | Some | 4 | |
| Short stature, developmental delay, congenital heart defect syndrome | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 | |
| Short stature, developmental delay, congenital heart defect syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Short stature, developmental delay, congenital heart defect syndrome | Finding site | Structure of heart | true | Inferred relationship | Some | 1 | |
| Short stature, developmental delay, congenital heart defect syndrome | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Short stature, developmental delay, congenital heart defect syndrome | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Clinical finding foundation reference set
Cardiovascular finding reference set
Problem/Diagnosis reference set
FHIR