Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3755551013 | Male emopamil-binding protein disorder with neurological defect | en | Synonym | Active | Case insensitive | SNOMED CT core |
| 3755552018 | Male EBP (emopamil-binding protein) disorder with neurological defect | en | Synonym | Active | Initial character case insensitive | SNOMED CT core |
| 3755553011 | Male emopamil-binding protein disorder with neurological defect (disorder) | en | Fully specified name | Active | Case insensitive | SNOMED CT core |
| 3755660013 | MEND (male emopamil-binding protein disorder with neurological defect) syndrome | en | Synonym | Active | Case sensitive | SNOMED CT core |
| 3755444019 | A rare genetic syndromic sterol biosynthesis disorder affecting males. The disease has characteristics of skin manifestations including collodion membrane, ichthyosis and patchy hypopigmented lesions associated with severe neurological involvement (for example intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). Toe syndactyly, polydactyly and kyphosis as well as ophthalmic, cardiac and urogenital anomalies may also be associated. There is evidence the disease is caused by hemizygous mutation in the EBP gene on chromosome Xp11. | en | Definition | Active | Case sensitive | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Male emopamil-binding protein disorder with neurological defect | Is a | Congenital anomaly of nervous system | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Congenital anomaly of skin | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Inborn error of metabolism | false | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Lipid metabolism disorder | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Male emopamil-binding protein disorder with neurological defect | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 1 | |
| Male emopamil-binding protein disorder with neurological defect | Associated morphology | Morphologically abnormal structure | true | Inferred relationship | Some | 2 | |
| Male emopamil-binding protein disorder with neurological defect | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Male emopamil-binding protein disorder with neurological defect | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Male emopamil-binding protein disorder with neurological defect | Pathological process | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Male emopamil-binding protein disorder with neurological defect | Is a | X-linked hereditary disease | false | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Finding site | Structure of nervous system | true | Inferred relationship | Some | 1 | |
| Male emopamil-binding protein disorder with neurological defect | Finding site | Skin structure | true | Inferred relationship | Some | 2 | |
| Male emopamil-binding protein disorder with neurological defect | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | X-linked recessive hereditary disease | true | Inferred relationship | Some | ||
| Male emopamil-binding protein disorder with neurological defect | Is a | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Australian emergency department reference set
Clinical finding foundation reference set
Problem/Diagnosis reference set
FHIR