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 |
| 3323017014 | Calderón González Cantu syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3330082015 | Hair defect with photosensitivity and intellectual disability syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3330083013 | Hair defect with photosensitivity and intellectual disability syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 756811000241119 | syndrome d'anomalie des cheveux-photosensibilité-déficience intellectuelle (trouble) | fr | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 907651000172112 | syndrome d'anomalie des cheveux-photosensibilité-déficience intellectuelle | fr | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 945631000172117 | syndrome de Calderón-González-Cantu | fr | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT Common French translation module (core metadata concept) |
| 3323018016 | Syndrome with the association of stubby, coarse, sparse and fragile hair, eyebrows and eyelashes with photosensitivity and nonprogressive intellectual deficit, without a demonstrable metabolic aberration. It has been described in three sisters born to consanguineous parents. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | morphologie associée (attribut) | structure anormale sur le plan morphologique | true | Inferred relationship | Some | 1 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | true | Inferred relationship | Some | 1 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | true | Inferred relationship | Some | 2 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Developmental hereditary disorder | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Congenital anomaly of hair | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Photosensitivity | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Mental retardation | false | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Hereditary disorder of the integument | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Disorders of skin induced by physical agents | true | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | Causative agent | lumière | true | Inferred relationship | Some | 2 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | structure de la peau | false | Inferred relationship | Some | ||
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | morphologie associée (attribut) | Developmental abnormality | false | Inferred relationship | Some | 3 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | survenue (attribut) | congénital | false | Inferred relationship | Some | 3 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | localisation d'une constatation (attribut) | Hair structure (body structure) | false | Inferred relationship | Some | 3 | |
| Hair defect with photosensitivity and intellectual disability syndrome (disorder) | est un(e) (attribut) | Intellectual disability | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR