Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3736404010 | Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736405011 | Blepharophimosis, intellectual disability syndrome, Verloes type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736406012 | Blepharophimosis, intellectual disability syndrome type V | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3736407015 | A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. Hypotonia, moderate to severe psychomotor delay, and characteristic facial dysmorphism (including round face with prominent cheeks, blepharophimosis, large, bulbous nose with wide alae nasi, posteriorly rotated ears with dysplastic conchae, narrow mouth, cleft palate, and mild micrognathia) are additional characteristic features. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
4223011000052119 | syndrom med blefarofimos och intellektuell funktionsnedsättning, Verloestyp | sv | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Hereditary disorder of the visual system (disorder) | true | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Congenital blepharophimosis | false | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Multiple malformation syndrome with facial defects as major feature | false | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 1 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Congenital anomaly of eyelid | false | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Narrowing of palpebral fissure (disorder) | false | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Blepharophimosis, intellectual disability syndrome (disorder) | true | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Finding site | Eyelid structure | true | Inferred relationship | Some | 2 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 2 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 3 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 3 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 4 | |
Blepharophimosis, intellectual disability syndrome, Verloes type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 4 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets