Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
3304970016 | Oculocerebral hypopigmentation syndrome of Preus type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3304971017 | Oculocerebral hypopigmentation syndrome of Preus type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3304972012 | Oculocerebral hypopigmentation syndrome of Preus | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
5401243019 | Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401244013 | Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304970016 | Oculocerebral hypopigmentation syndrome of Preus type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3304971017 | Oculocerebral hypopigmentation syndrome of Preus type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3304972012 | Oculocerebral hypopigmentation syndrome of Preus | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
3304973019 | A rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3304974013 | A rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuropsychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401243019 | Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterized by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anemia, and/or nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
5401244013 | Oculocerebral hypopigmentation syndrome, Preus type is a rare congenital syndrome characterised by skin and hair hypopigmentation, growth retardation, and intellectual deficit that are associated with a combination of various additional clinical anomalies such as ocular albinism, cataract, delayed neuro-psychomotor development, sensorineural hearing loss, dolicocephaly, high arched palate, widely spaced teeth, anaemia, and/or nystagmus. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
3436171001000113 | Okulozerebrales Hypopigmentierungs-Syndrom Typ Preus | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
869401000172111 | syndrome oculo-cérébral d'hypopigmentation type Preus | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
869401000172111 | syndrome oculo-cérébral d'hypopigmentation type Preus | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
3436171001000113 | Okulozerebrales Hypopigmentierungs-Syndrom Typ Preus | de | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Switzerland NRC maintained Module |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)