Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 1005281000172117 | neurodégénerescence létale par déficit du transport du cuivre | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 1014801000172113 | syndrome de cataracte congénitale-surdité-retard de développement sévère | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3725382013 | Congenital cataract, hearing loss, severe developmental delay syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725383015 | Congenital cataract, hearing loss, severe developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725384014 | Congenital cataract, deafness, severe developmental delay syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3725385010 | Lethal neurodegenerative disorder due to copper transport defect | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 771781000241114 | syndrome de cataracte congénitale-surdité-retard de développement sévère (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3725386011 | A rare genetic lethal neurometabolic disease characterized by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalized muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3725387019 | A rare genetic lethal neurometabolic disease characterised by congenital cataracts, sensorineural hearing loss, severe psychomotor developmental delay, severe generalised muscular hypotonia and central nervous system abnormalities (including cerebellar and cerebral hypoplasia, hypomyelination, wide subarachnoid spaces) in the presence of low serum copper and ceruloplasmin. Nystagmus and seizures have also been reported. The disease is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene on chromosome 3q25. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Hereditary disorder of the visual system | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Hearing loss associated with syndrome | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Congenital cataract | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | survenue (attribut) | congénital | true | Inferred relationship | Some | 3 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | interprète (attribut) | Hearing, function (observable entity) | true | Inferred relationship | Some | 4 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | retard de développement | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Congenital sensorineural hearing loss (disorder) | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Auditory system hereditary disorder | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Inherited metabolic disorder of nervous system | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | localisation d'une constatation (attribut) | oreille | true | Inferred relationship | Some | 1 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 2 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | localisation d'une constatation (attribut) | cristallin | true | Inferred relationship | Some | 3 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | morphologie associée (attribut) | Cataract | false | Inferred relationship | Some | 3 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | morphologie associée (attribut) | opacité | true | Inferred relationship | Some | 3 | |
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | affection de l'oreille | true | Inferred relationship | Some | ||
| syndrome de cataracte congénitale-surdité-retard de développement sévère | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR