Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3304697013 | Holoprosencephaly and postaxial polydactyly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304698015 | Holoprosencephaly and postaxial polydactyly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304699011 | Pseudotrisomy 13 syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3304700012 | Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13. Incidence is unknown. Dysmorphic features include hypotelorism, severe eye anomalies such as microphthalmia or anophthalmia, premaxillary region aplasia and cleft lip and palate. Congenital cardiac anomalies are common. The condition seems to be inherited as an autosomal recessive trait. Prognosis is poor. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 12739671000172111 | syndrome de pseudotrisomie 13 | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 12739681000172114 | syndrome d'HPE (holoprosencéphalie) et polydactylie postaxiale | fr | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 12739691000172112 | syndrome d'holoprosencéphalie et polydactylie postaxiale | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4632481000172115 | syndroom van holoprosencefalie en postaxiale polydactylie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| 4632491000172117 | pseudotrisomie-13-syndroom | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | Belgian module (core metadata concept) |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Is a | Holoprosencephaly sequence | true | Inferred relationship | Some | ||
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Associated morphology | Supernumerary structure | false | Inferred relationship | Some | 3 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Finding site | Digit structure | false | Inferred relationship | Some | 3 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
| Holoprosencephaly and postaxial polydactyly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR