Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3498653017 | Marfanoid habitus with autosomal recessive intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498654011 | Marfanoid habitus, intellectual disability autosomal recessive | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3498655012 | Marfanoid habitus with autosomal recessive intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6942371000146113 | syndroom van marfanoïde habitus en autosomaal recessieve mentale retardatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7495091000146112 | syndroom van marfanoïde habitus en autosomaal recessieve verstandelijke beperking (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7574961000146119 | syndroom van marfanoïde habitus en autosomaal recessieve verstandelijke beperking | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7574971000146113 | syndroom van marfanoïde habitus en autosomaal recessieve verstandelijke handicap | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3499950012 | A very rare multiple congenital anomalies syndrome described in four siblings and with characteristics of intellectual deficit, flat face and some skeletal features of Marfan syndrome such as tall stature, dolichostenomelia, arm span larger than height, arachnodactyly of hands and feet, little subcutaneous fat, muscle hypotonia and intellectual deficit. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | Marfanoid physique | true | Inferred relationship | Some | ||
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Interprets | Physique type | true | Inferred relationship | Some | 2 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 3 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Finding site | Face structure | false | Inferred relationship | Some | 3 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| Marfanoid habitus with autosomal recessive intellectual disability syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR