Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2014. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2983598012 | Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type | en | Synonym (core metadata concept) | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2983642016 | Say-Barber-Biesecker-Young-Simpson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2983655015 | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2983687017 | Blepharophimosis-mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) | en | Fully specified name | Inactive | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2983711017 | Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 2983721013 | Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 2983738012 | Young-Simpson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3782735016 | Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 5066754016 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 5066755015 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3782734017 | Rare syndrome with the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5453988013 | A rare, genetic, multiple congenital anomalies syndrome characterized by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5453989017 | A rare, genetic, multiple congenital anomalies syndrome characterised by the association of a typical facial phenotype with microcephaly associated with congenital hypothyroidism, skeletal involvement (polydactyly, long thumb(s) and long first toe(s), and patellar hypoplasia/agenesis), and some degree of global developmental delay, hypotonia and intellectual disability. Facial features include an immobile mask-like face, severe blepharophimosis and ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, small mouth, thin upper lip, hypoplastic teeth and small, low set ears. Renal and genital anomalies, usually cryptorchidism, are often present in affected males. Congenital heart defects and growth delay are variably present. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | false | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Tooth structure | false | Inferred relationship | Some | 4 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 6 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Heart structure | false | Inferred relationship | Some | 6 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Narrowed structure (morphologic abnormality) | false | Inferred relationship | Some | 5 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Structure of palpebral fissure | false | Inferred relationship | Some | 5 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 7 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Eyelid structure | false | Inferred relationship | Some | 7 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Eyelid structure | false | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 2 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Heart structure | false | Inferred relationship | Some | 2 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Heart structure | false | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Eyelid structure | true | Inferred relationship | Some | 2 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 3 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Deformity | true | Inferred relationship | Some | 2 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Congenital hypothyroidism | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Hereditary disorder of endocrine system (disorder) | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Thyroid structure | true | Inferred relationship | Some | 4 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Finding site | Digit structure | true | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Polydactyly (disorder) | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Blepharophimosis, intellectual disability syndrome (disorder) | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Associated morphology | Supernumerary structure | true | Inferred relationship | Some | 1 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR