Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2004. Module: SNOMED CT core module
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
2474343011 | Mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
2478440016 | Ohdo blepharophimosis syndrome | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
3643123015 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth (disorder) | en | Fully specified name | Active | Entire term case insensitive | SNOMED CT core module |
3643126011 | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | en | Synonym | Active | Entire term case insensitive | SNOMED CT core module |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Congenital heart disease | true | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Mental retardation | false | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Disorder of tooth development | false | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Congenital blepharophimosis | false | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Narrowed structure | true | Inferred relationship | Existential restriction modifier | 3 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Structure of orbit proper | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Eyelid structure | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Structure of palpebral fissure | true | Inferred relationship | Existential restriction modifier | 3 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 3 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Tooth structure | true | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Face structure | false | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Heart structure | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Congenital anomaly | false | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Eyelid structure | true | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Occurrence | Congenital | false | Inferred relationship | Existential restriction modifier | 5 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Developmental anomaly | false | Inferred relationship | Existential restriction modifier | 5 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Heart structure | false | Inferred relationship | Existential restriction modifier | 5 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Narrowed structure | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Structure of palpebral fissure | false | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 3 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Intellectual disability | false | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Occurrence | Congenital | true | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Finding site | Heart structure | true | Inferred relationship | Existential restriction modifier | 2 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 3 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Deformity | true | Inferred relationship | Existential restriction modifier | 4 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Blepharophimosis, intellectual disability syndrome | true | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Pathological process | Pathological developmental process | true | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Associated morphology | Hypoplasia | true | Inferred relationship | Existential restriction modifier | 1 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Is a | Congenital anomaly of tooth | true | Inferred relationship | Existential restriction modifier | ||
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Interprets | Intellectual ability | true | Inferred relationship | Existential restriction modifier | 5 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 5 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Interprets | Adaptation behavior | true | Inferred relationship | Existential restriction modifier | 6 | |
Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Has interpretation | Impaired | true | Inferred relationship | Existential restriction modifier | 6 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Blepharophimosis-intellectual disability syndrome Maat-Kievit-Brunner type | Is a | False | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Inferred relationship | Existential restriction modifier | |
Blepharophimosis, intellectual disability syndrome, Say-Barber-Biesecker-Young-Simpson type | Is a | False | Intellectual disability, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth | Inferred relationship | Existential restriction modifier |
This concept is not in any reference sets