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 |
3316147015 | Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316148013 | Microcephalus with cardiac defect and lung malsegmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316149017 | Microcephaly with cardiac defect and lung malsegmentation syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3316150017 | Ellis Yale Winter syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3316151018 | A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | true | Inferred relationship | Some | 2 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | cœur | true | Inferred relationship | Some | 1 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | interprète (attribut) | Birth head circumference | true | Inferred relationship | Some | 4 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | structure de la tête | true | Inferred relationship | Some | 3 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | a pour interprétation (attribut) | au-dessous de l'étendue de référence | true | Inferred relationship | Some | 4 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | Congenital microcephaly (disorder) | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | maladie cardiaque congénitale | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | anomalie congénitale du poumon | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | Cardiovascular system hereditary disorder | true | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | false | Inferred relationship | Some | ||
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 4 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 4 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | false | Inferred relationship | Some | 5 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 5 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 5 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 3 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | false | Inferred relationship | Some | 3 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | structure d'un poumon | false | Inferred relationship | Some | 4 | |
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) | localisation d'une constatation (attribut) | cœur | false | Inferred relationship | Some | 3 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets