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 |
| 6836701000146114 | syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, strabisme en plooi in oorlel | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 6938871000146118 | syndroom van Mehes | nl | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 7858011000146110 | syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, strabismus en plooi in oorlel | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12045831000146117 | syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, scheelzien en plooi in oorlel | nl | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 12045841000146113 | syndroom van vertraagde spraakontwikkeling, asymmetrie van aangezicht, strabismus en plooi in oorlel (aandoening) | nl | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Netherlands NRC maintained module (core metadata concept) |
| 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) | Is a | Hereditary disease | false | Inferred relationship | Some | ||
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Is a | 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) | Is a | Speech delay | true | Inferred relationship | Some | ||
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Associated morphology | gebrekkige ontwikkeling (afwijkende morfologie) | false | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Finding site | Face structure | true | Inferred relationship | Some | 1 | |
| 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) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Interprets | Ability to perform functions related to communication | true | Inferred relationship | Some | 2 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Has interpretation | Abnormal | true | Inferred relationship | Some | 2 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Interprets | Speech and language observable | false | Inferred relationship | Some | 3 | |
| Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR