Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3323103015 | Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323104014 | Epiphyseal dysplasia, microcephalus, nystagmus syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3323105010 | Lowry Wood syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3323106011 | Syndrome with the association of epiphyseal dysplasia, short stature, microcephaly and in the first reported cases congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa and coxa vara. Transmission appears to be autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | localisation d'une constatation (attribut) | Structure of epiphysis | true | Inferred relationship | Some | 2 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 2 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 1 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | Chronic brain syndrome | false | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | évolution clinique (attribut) | progressif | true | Inferred relationship | Some | 3 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 4 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 5 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 1 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 5 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | dysplasie épiphysaire multiple | true | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | insuffisance staturale | false | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 3 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 3 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | morphologie associée (attribut) | Congenital dysplasia | false | Inferred relationship | Some | 4 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
| Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) | localisation d'une constatation (attribut) | Structure of epiphysis | false | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR