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 |
| 3736324010 | Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736325011 | Congenital neutropenia, bone marrow fibrosis, nephromegaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736326012 | VPS45 deficiency | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736327015 | Congenital neutropenia, myelofibrosis, nephromegaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3736328013 | A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinemia, anemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3736329017 | A rare genetic primary immunodeficiency disorder with characteristics of severe congenital neutropenia, bone marrow fibrosis and neutrophil dysfunction which is refractory to granulocyte colony-stimulating factor, manifesting with life-threatening infections and/or deep-seated abscesses, hepato/splenomegaly, thrombocytopenia, hypergammaglobulinaemia, anaemia with reticulocytosis and nephromegaly. Other reported features include osteosclerosis and neurological abnormalities (for example developmental delay, cortical blindness, hearing loss, thin corpus callosum or dysrhythmia on EEG). Caused by homozygous mutation in the VPS45 gene on chromosome 1q. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Congenital enlarged kidney | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Associated morphology | Reticulin fibrosis | true | Inferred relationship | Some | 2 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Congenital neutropenia | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Hereditary white blood cell disorder (disorder) | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Finding site | Entire kidney | true | Inferred relationship | Some | 3 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Finding site | Bone marrow structure | true | Inferred relationship | Some | 2 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Myelofibrosis | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Abdominal organomegaly | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Interprets | Neutrophil count | true | Inferred relationship | Some | 1 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 1 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Associated morphology | Congenital enlargement | false | Inferred relationship | Some | 3 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Pathological process (attribute) | Abnormal immune process (qualifier value) | true | Inferred relationship | Some | 4 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Associated morphology | Enlargement (morphologic abnormality) | true | Inferred relationship | Some | 3 | |
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
This concept is not in any reference sets
FHIR