Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3305063013 | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305064019 | Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3305065018 | Mehes syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3305066017 | This syndrome is extremely rare and has characteristics of delayed speech development, mild facial asymmetry, strabismus and transverse ear lobe creases. To date, six cases have been reported in five families. Dysmorphic features include asymmetrical face, unilateral narrow palpebral fissure, divergent strabismus, long philtrum, high-arched palate, apparently low-set ears and transverse ear lobe creases on both sides. Delayed language development is constant but intellectual development can be normal. In one family, the transmission was compatible with either autosomal dominant or X-linked dominant inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | interprète (attribut) | capacité d'exécuter les fonctions reliées à la communication | true | Inferred relationship | Some | 2 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | a pour interprétation (attribut) | anormal | true | Inferred relationship | Some | 2 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | interprète (attribut) | entité observable de la parole et du langage | false | Inferred relationship | Some | 3 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | est un(e) (attribut) | maladie héréditaire | false | Inferred relationship | Some | ||
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | est un(e) (attribut) | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | est un(e) (attribut) | retard de langage | true | Inferred relationship | Some | ||
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | localisation d'une constatation (attribut) | face | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR