Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Oct 2021. Module: SNOMED CT core
Descriptions:
| Id | Description | Lang | Type | Status | Case? | Module |
| 4643864018 | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | en | Fully specified name | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643865017 | MYSM1 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643866016 | Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome | en | Synonym (core metadata concept) | Active | Only initial character case insensitive (core metadata concept) | SNOMED CT core |
| 4643867013 | MYSM1 (Myb like, SWIRM and MPN domains 1) deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643868015 | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anemia, leukopenia, mild thrombocytopenia and myelodysplastic features. There are also non-hematologic manifestations such as developmental delay, cataracts, facial dysmorphism, short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss and reduction of cerebral volume on brain imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 4643869011 | A rare multiple congenital anomalies/dysmorphic syndrome with characteristics of early-onset progressive bone marrow failure with anaemia, leucopenia, mild thrombocytopenia and myelodysplastic features. There are also non-haematologic manifestations such as developmental delay, cataracts, facial dysmorphism, short stature and skeletal anomalies. Immunodeficiency primarily affects B-cells and may lead to increased susceptibility to infections. Additional reported features include dry skin and eczema, cardiac anomalies, hearing loss and reduction of cerebral volume on brain imaging. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Immuno-osseous dysplasia | true | Inferred relationship | Some | ||
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | syndrome myélodysplasique avec dysplasie multilignée (trouble) | true | Inferred relationship | Some | ||
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | Genetic disease | true | Inferred relationship | Some | ||
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | est un(e) (attribut) | syndrome de malformations multisystémiques | true | Inferred relationship | Some | ||
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | interprète (attribut) | Height / growth measure | true | Inferred relationship | Some | 3 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 1 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | Bone marrow structure | true | Inferred relationship | Some | 1 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | Myelodysplastic syndrome with multilineage dysplasia (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 1 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | survenue (attribut) | congénital | true | Inferred relationship | Some | 2 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | localisation d'une constatation (attribut) | structure osseuse | true | Inferred relationship | Some | 2 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | morphologie associée (attribut) | dysplasie | true | Inferred relationship | Some | 2 | |
| Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR