Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2014. Module: SNOMED CT core module
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2983642016 | Say-Barber-Biesecker-Young-Simpson syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 2983655015 | Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 2983711017 | Blepharophimosis-intellectual deficit syndrome, Say-Barber/Biesecker/Young-Simpson type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 2983721013 | Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 2983738012 | Young-Simpson syndrome | en | Synonym | Active | Entire term case sensitive | SNOMED CT core module |
| 3782735016 | Hypothyroidism, dysmorphism, postaxial polydactyly, intellectual disability syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
| 5066754016 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | en | Synonym | Active | Only initial character case insensitive | SNOMED CT core module |
| 5066755015 | Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type (disorder) | en | Fully specified name | Active | Only initial character case insensitive | SNOMED CT core module |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | false | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Tooth structure | false | Inferred relationship | Existential restriction modifier | 4 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 6 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Heart structure | false | Inferred relationship | Existential restriction modifier | 6 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Narrowed structure | false | Inferred relationship | Existential restriction modifier | 5 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Structure of palpebral fissure | false | Inferred relationship | Existential restriction modifier | 5 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 7 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Eyelid structure | false | Inferred relationship | Existential restriction modifier | 7 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Eyelid structure | false | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Heart structure | false | Inferred relationship | Existential restriction modifier | 2 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Heart structure | false | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Eyelid structure | true | Inferred relationship | Existential restriction modifier | 2 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Narrowed structure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Structure of palpebral fissure | true | Inferred relationship | Existential restriction modifier | 3 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Morphologically abnormal structure | false | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Deformity | true | Inferred relationship | Existential restriction modifier | 2 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Hereditary disorder of the visual system | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Autosomal dominant hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Congenital hypothyroidism | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Hereditary disorder of endocrine system | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Thyroid structure | true | Inferred relationship | Existential restriction modifier | 4 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Finding site | Digit structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Polydactyly | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Blepharophimosis, intellectual disability syndrome | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Associated morphology | Supernumerary structure | true | Inferred relationship | Existential restriction modifier | 1 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | Developmental hereditary disorder | true | Inferred relationship | Existential restriction modifier | ||
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
| Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR