Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 3705333018 | Patterson syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705334012 | Pseudoleprechaunism syndrome Patterson type (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705335013 | Pseudoleprechaunism syndrome Patterson type | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 3705336014 | Patterson pseudoleprechaunism syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3705337017 | A rare genetic adrenal disorder with characteristics of congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. | en | Definition | Inactive | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405055010 | Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5405056011 | Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterised by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Adrenal hyperfunction | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Short stature disorder | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Intellectual disability | false | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Congenital pigmentary skin anomalies | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Multiple system malformation syndrome | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Degenerative disorder | false | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Has interpretation | Increased | true | Inferred relationship | Some | 2 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Interprets | Hormone production | true | Inferred relationship | Some | 2 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Finding site | Skin structure | true | Inferred relationship | Some | 1 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Associated morphology | Hyperpigmentation | true | Inferred relationship | Some | 1 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Finding site | Adrenal structure | true | Inferred relationship | Some | 3 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Functional finding | false | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Hyperpigmentation of skin | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Increased hormone production | false | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Interprets | Height / growth measure | false | Inferred relationship | Some | 4 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Interprets | Intellectual ability (observable entity) | true | Inferred relationship | Some | 5 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 5 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Interprets | Adaptation behavior (observable entity) | true | Inferred relationship | Some | 6 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Has interpretation | Impaired | true | Inferred relationship | Some | 6 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Genetic intellectual disability | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Is a | Genetic disorder of skin pigmentation (disorder) | true | Inferred relationship | Some | ||
| Pseudoleprechaunism syndrome Patterson type (disorder) | Interprets | Body height (observable entity) | true | Inferred relationship | Some | 4 | |
| Pseudoleprechaunism syndrome Patterson type (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 4 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR