Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3644739011 | Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3644755016 | Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 6730701000146113 | syndroom van postaxiale polydactylie, anterieure hypofyseafwijkingen en faciale dysmorfie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6730711000146110 | syndroom van postaxiale polydactylie, anterieure hypofyseafwijkingen en faciale dysmorfie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3644756015 | A rare genetic developmental defect during embryogenesis with primary characteristics of congenital hypopituitarism and/or postaxial polydactyly. It can be associated with short stature, delayed bone age, hypogonadotropic hypogonadism, and/or midline facial defects (e.g. hypotelorism, mild midface hypoplasia, flat nasal bridge, and cleft lip and/or palate). Hypoplastic anterior pituitary and ectopic posterior pituitary lobe are frequent findings on MRI examination. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome | 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