Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2004. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 2474343011 | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 2478440016 | Ohdo blepharophimosis syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643123015 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3643126011 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3782737012 | A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. Abnormal ears, microcephaly, and growth retardation have been reported occasionally. Male patients may show cryptorchidism and scrotal hypoplasia. Most reported cases are sporadic, except the original cases of Ohdo who described two affected sisters and a first cousin, suggesting autosomal recessive inheritance. Autosomal dominant, X-linked- and mitochondrial inheritance have also been suggested. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Congenital heart disease | true | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Mental retardation | false | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Disorder of tooth development (disorder) | false | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Congenital blepharophimosis | false | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Structure of orbit proper | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Eyelid structure | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Structure of palpebral fissure | true | Inferred relationship | Some | 3 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 3 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Tooth structure | true | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Face structure | false | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Congenital anomaly | false | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Eyelid structure | true | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 5 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 5 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Heart structure | false | Inferred relationship | Some | 5 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Narrowed structure (morphologic abnormality) | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Structure of palpebral fissure | false | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Finding site | Heart structure | true | Inferred relationship | Some | 2 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Deformity | true | Inferred relationship | Some | 4 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Blepharophimosis, intellectual disability syndrome (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 1 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Is a | Congenital anomaly of tooth (disorder) | true | Inferred relationship | Some | ||
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
| Ohdo syndrome, Maat-Kievit-Brunner type | Is a | False | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Inferred relationship | Some | |
| Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant | Is a | False | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | Inferred relationship | Some |
This concept is not in any reference sets
FHIR