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 |
| 3322212017 | Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322213010 | Congenital neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3322214016 | Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322220015 | Neuronal ceroid lipofuscinosis due to cathepsin D deficiency | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322221016 | Neuronal ceroid lipofuscinosis 10 | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3535042018 | Cathepsin D deficient neuronal ceroid lipofuscinosis | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3322215015 | A severe form of neuronal ceroid lipofuscinosis with onset at birth and characteristics of primary microcephaly, neonatal epilepsy and death in early infancy. It is a rare form of neuronal ceroid lipofuscinosis with only around 10 cases reported in the literature so far. Patients present with postnatal respiratory insufficiency, seizures immediately after birth and a lower than normal head circumference. Transmitted in an autosomal recessive manner and is caused by mutations in the CTSD gene (designated CLN10; 11p15.5) encoding the lysosomal enzyme cathepsin D. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | morphologie associée (attribut) | Degenerative abnormality | true | Inferred relationship | Some | 2 | |
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | Due to | Deficiency of cathepsin D (disorder) | true | Inferred relationship | Some | 1 | |
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | est un(e) (attribut) | céroïde-lipofuscinose neuronale | true | Inferred relationship | Some | ||
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | morphologie associée (attribut) | dégénérescence | false | Inferred relationship | Some | 2 | |
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Neuronal ceroid lipofuscinosis due to deficiency of cathepsin D (disorder) | localisation d'une constatation (attribut) | système nerveux | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR