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 |
| 749361000241117 | syndrome oculo-cérébral d'hypopigmentation type Preus (trouble) | fr | Fully specified name | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 869401000172111 | syndrome oculo-cérébral d'hypopigmentation type Preus | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 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 |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | Pathological process (attribute) | Pathological developmental process | false | Inferred relationship | Some | 2 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | morphologie associée (attribut) | Hypopigmentation | false | Inferred relationship | Some | 2 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | morphologie associée (attribut) | Hypopigmentation | true | Inferred relationship | Some | 1 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | est un(e) (attribut) | Congenital deficiency of pigment of skin | true | Inferred relationship | Some | ||
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | est un(e) (attribut) | Congenital anomaly of hair | true | Inferred relationship | Some | ||
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | morphologie associée (attribut) | Congenital hypopigmentation | false | Inferred relationship | Some | 2 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 2 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | morphologie associée (attribut) | Congenital hypopigmentation | false | Inferred relationship | Some | 3 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | 2 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
| Oculocerebral hypopigmentation syndrome of Preus type (disorder) | est un(e) (attribut) | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR