Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3324386011 | Blepharonasofacial malformation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324387019 | Blepharonasofacial malformation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3324388012 | Pashayan syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3324389016 | Pashayan Prozansky syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 6797161000146119 | syndroom van blefaronasofaciale malformatie (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6797171000146113 | syndroom van Pashayan-Prozansky | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6797181000146110 | syndroom van blefaronasofaciale malformatie | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6908091000146116 | syndroom van Pashayan | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 3324390013 | A rare otorhinolaryngological malformation syndrome with characteristics of a distinctive mask-like facial dysmorphism, lacrimal duct obstruction, extrapyramidal features, digital malformations and intellectual disability. Reported in 3 families to date. The facies has a mask-like appearance due to weakness of facial muscles and lacrimal duct obstruction is characteristic. Clinical features also include telecanthus, bulky nose, broad nasal bridge, sometimes a hypoplastic midface, longitudinal cheek furrows, trapezoidal upper lip and malformation of the ears. Intellectual disability, cutaneous syndactyly, torsion dystonia, increased deep tendon reflexes; Babinski sign, poor coordination and joint laxity are also observed. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Blepharonasofacial malformation syndrome (disorder) | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Blepharonasofacial malformation syndrome (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Blepharonasofacial malformation syndrome (disorder) | Is a | mentale retardatie | false | Inferred relationship | Some | ||
| Blepharonasofacial malformation syndrome (disorder) | Is a | Congenital anomaly of nose | true | Inferred relationship | Some | ||
| Blepharonasofacial malformation syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Blepharonasofacial malformation syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Blepharonasofacial malformation syndrome (disorder) | Finding site | Nasal structure | true | Inferred relationship | Some | 1 | |
| Blepharonasofacial malformation syndrome (disorder) | Is a | Intellectual disability | true | Inferred relationship | Some | ||
| Blepharonasofacial malformation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Blepharonasofacial malformation syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Blepharonasofacial malformation syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Blepharonasofacial malformation syndrome (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 2 | |
| Blepharonasofacial malformation syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 2 | |
| Blepharonasofacial malformation syndrome (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 3 | |
| Blepharonasofacial malformation syndrome (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Description inactivation indicator reference set
FHIR