Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3727872015 | FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3727873013 | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3727874019 | Fibulin 1-related developmental delay, central nervous system anomaly, syndactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3727875018 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of delayed motor development, intellectual disability, dysarthria, pseudobulbar signs, cryptorchidism, and syndactyly associated with a FLBN1 gene point mutation. Macular degeneration and signs of brain atrophy and spinal cord compression have also been reported. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Associated morphology | Congenital abnormal fusion | false | Inferred relationship | Some | 1 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Finding site | Structure of central nervous system (body structure) | true | Inferred relationship | Some | 2 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Congenital anomaly of central nervous system | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Syndactyly (disorder) | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Multiple malformation syndrome with limb defect as major feature | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Has interpretation | Impaired | true | Inferred relationship | Some | 4 | |
| FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome | Associated morphology | Abnormally fused structure (morphologic abnormality) | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR