Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Jul 2025. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3308744016 | Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308745015 | Hereditary palmoplantar keratoderma Gamborg Nielsen type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3308746019 | The presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401519018 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5401520012 | Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterised by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Is a | Autosomal recessive hereditary disorder | false | Inferred relationship | Some | ||
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Is a | Hereditary disorder of the integument | false | Inferred relationship | Some | ||
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Is a | Hereditary diffuse palmoplantar keratoderma (disorder) | false | Inferred relationship | Some | ||
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Has definitional manifestation | Abnormal keratinization | false | Inferred relationship | Some | ||
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Finding site | Skin structure | false | Inferred relationship | Some | 3 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Finding site | Skin structure | false | Inferred relationship | Some | 4 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 3 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Occurrence | Congenital | false | Inferred relationship | Some | 3 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 4 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Has interpretation | Abnormal | false | Inferred relationship | Some | 1 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Interprets | Keratinization | false | Inferred relationship | Some | 1 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 2 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Associated morphology | Hyperkeratosis | false | Inferred relationship | Some | 1 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Finding site | Skin structure of sole of foot (body structure) | false | Inferred relationship | Some | 1 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Finding site | Skin structure of palmar area of hand | false | Inferred relationship | Some | 2 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Finding site | Entire skin of palmar area of hand | false | Inferred relationship | Some | 1 | |
| Hereditary palmoplantar keratoderma Gamborg Nielsen type | Finding site | Entire skin of sole of foot | false | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
Concept inactivation indicator reference set
REPLACED BY association reference set (foundation metadata concept)
FHIR