Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3431031014 | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431032019 | Microcephalic primordial dwarfism due to ZNF335 deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431033012 | Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3431034018 | Microcephalic primordial dwarfism due to ZNF335 (zinc finger protein 335) deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431035017 | Microcephalic primordial dwarfism Walsh type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3431036016 | Syndrome that has characteristics of severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur. There is evidence this syndrome is caused by homozygous mutation in the ZNF335 gene on chromosome 20q13. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 2 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | Congenital microencephaly (disorder) | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | microcéphalie | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | anomalie congénitale de l'encéphale | false | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | Primordial dwarfism | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | est un(e) (attribut) | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | morphologie associée (attribut) | Congenital smallness | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) | localisation d'une constatation (attribut) | structure de l'encéphale | true | Inferred relationship | Some | 1 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR