Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643904015 | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4643905019 | Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 4643906018 | A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-esophageal reflux have also been described while malar rash is typically absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643907010 | A rare genetic disease with characteristics of multiple café au lait macules and elevated rates of sister chromatid exchange demonstrated on cytogenetic testing. Pre and postnatal growth deficiency with short stature, microcephaly, mild developmental delay, cardiomyopathy and symptomatic gastro-oesophageal reflux have also been described while malar rash is typically absent. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Is a | Microcephaly (finding) | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Is a | Disorder of head (disorder) | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Is a | Café au lait spots | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Is a | Inherited cutaneous hyperpigmentation | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Interprets | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Finding site | Head structure | true | Inferred relationship | Some | 3 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Interprets | Head circumference | true | Inferred relationship | Some | 2 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 2 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR