Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: module van internationale editie (metadata)
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module | Reference Sets |
| 2995163018 | Lethal ataxia-deafness-optic atrophy | en | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: acceptabel |
| 2995374018 | Arts syndrome | en | synoniem (metadata) | Active | gehele beschrijving hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: voorkeursterm |
| 3776946018 | Fatal X-linked ataxia with deafness and loss of vision (disorder) | en | volledig gespecificeerde naam (metadata) | Active | alleen eerste karakter niet-hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: voorkeursterm |
| 3776947010 | Fatal X-linked ataxia with deafness and loss of vision | en | synoniem (metadata) | Active | alleen eerste karakter niet-hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: acceptabel |
| 6124451000146116 | syndroom van Arts | nl | synoniem (metadata) | Active | alleen eerste karakter niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: acceptabel |
| 6124461000146118 | fatale X-gebonden ataxie met doofheid en blindheid (aandoening) | nl | volledig gespecificeerde naam (metadata) | Active | alleen eerste karakter niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: voorkeursterm |
| 6124471000146112 | fatale X-gebonden ataxie met doofheid en blindheid | nl | synoniem (metadata) | Active | alleen eerste karakter niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: voorkeursterm |
| 6124481000146114 | letale ataxie met doofheid en opticusatrofie | nl | synoniem (metadata) | Active | gehele beschrijving niet-hoofdlettergevoelig | SNOMED CT Netherlands NRC maintained module (core metadata concept) | Netherlands Dutch language reference set: acceptabel |
| 3776948017 | Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localized to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract. | en | tekstdefinitie (metadata) | Active | gehele beschrijving hoofdlettergevoelig | module van internationale editie (metadata) | Amerikaans-Engelse taalreferentieset (metadata): voorkeursterm |
| 3777438018 | Syndrome with characteristics of intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy. Other manifestations included floppiness, susceptibility to infections and later flaccid tetraplegia and areflexia. It is caused by missense mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1) localised to Xq22.1-q24, leading to impaired purine biosynthesis. Transmitted as an X-linked recessive trait. The disease has a fatal course during childhood (the majority of patients die before the age of 5 years) due to the high susceptibility of the patients to infections, especially of the upper respiratory tract. | en | tekstdefinitie (metadata) | Active | gehele beschrijving hoofdlettergevoelig | module van internationale editie (metadata) | Brits-Engelse taalreferentieset: voorkeursterm |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR