Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
1004221000172117 | syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3638633012 | Fetal akinesia, cerebral and retinal haemorrhage syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638634018 | Lethal congenital contracture syndrome type 5 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638635017 | Fetal akinesia, cerebral and retinal hemorrhage syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3638636016 | Fetal akinesia, cerebral and retinal hemorrhage syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
3780929019 | Foetal akinesia, cerebral and retinal haemorrhage syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
765861000241116 | syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
958601000172118 | LCCS5 - lethal congenital contracture syndrome type 5 | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
3638637013 | A rare lethal congenital myopathy syndrome characterized by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3638638015 | A rare lethal congenital myopathy syndrome characterised by decreased fetal movements and polyhydramnios in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal haemorrhages and decreased birth weight in the neonate. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | est un(e) (attribut) | Inherited arthrogryposis | true | Inferred relationship | Some | ||
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 2 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | interprète (attribut) | Range of joint movement | true | Inferred relationship | Some | 3 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | est un(e) (attribut) | Akinesia | true | Inferred relationship | Some | ||
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | a pour interprétation (attribut) | Decreased | true | Inferred relationship | Some | 3 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | localisation d'une constatation (attribut) | Structure of joint region | true | Inferred relationship | Some | 1 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | est un(e) (attribut) | Congenital anomaly of skeletal muscle | true | Inferred relationship | Some | ||
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | est un(e) (attribut) | Arthrogryposis | false | Inferred relationship | Some | ||
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | est un(e) (attribut) | Hereditary disorder of musculoskeletal system | true | Inferred relationship | Some | ||
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 2 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | localisation d'une constatation (attribut) | structure de muscle squelettique | true | Inferred relationship | Some | 2 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | morphologie associée (attribut) | Contracture (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
syndrome d'akinésie foetale-hémorragies cérébrales et rétiniennes | localisation d'une constatation (attribut) | structure articulaire | false | Inferred relationship | Some | 1 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets