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 |
| 3316222010 | Lethal hemolytic anemia and genital anomaly syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316223017 | Lethal hemolytic anemia and genital anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316224011 | Lethal haemolytic anaemia and genital anomaly syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
| 3316225012 | Waters West syndrome | en | Synonym (core metadata concept) | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402090010 | A rare genetic disease characterized by lethal non-spherocytic, non-immune hemolytic anemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 5402091014 | A rare genetic disease characterised by lethal non-spherocytic, non-immune haemolytic anaemia, in association with abnormalities of the external genitalia (such as micropenis and hypospadias). Reported dysmorphic features include flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. There have been no further descriptions in the literature since 1995. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Is a | Congenital anemia | true | Inferred relationship | Some | ||
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Is a | Genitourinary congenital anomalies | true | Inferred relationship | Some | ||
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Is a | Hereditary nonspherocytic haemolytic anaemia | true | Inferred relationship | Some | ||
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Finding site | Erythrocyte | true | Inferred relationship | Some | 5 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Has definitional manifestation | Erythropenia | false | Inferred relationship | Some | ||
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Has definitional manifestation | Hemolysis | false | Inferred relationship | Some | ||
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 7 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Interprets | Measurement of total haemoglobin concentration | true | Inferred relationship | Some | 7 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Has interpretation | Below reference range | true | Inferred relationship | Some | 8 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Interprets | Red blood cell count | true | Inferred relationship | Some | 8 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Associated morphology | Developmental anomaly | false | Inferred relationship | Some | 6 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Occurrence | Congenital | false | Inferred relationship | Some | 6 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Finding site | Structure of genitourinary system (body structure) | false | Inferred relationship | Some | 6 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Interprets | Erythrocyte destruction | false | Inferred relationship | Some | ||
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Finding site | Structure of genitourinary system (body structure) | true | Inferred relationship | Some | 1 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Has interpretation | Present | true | Inferred relationship | Some | 4 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Interprets | Hemolysis (observable entity) | true | Inferred relationship | Some | 4 | |
| Lethal hemolytic anemia and genital anomaly syndrome (disorder) | Is a | Developmental hereditary disorder | true | Inferred relationship | Some |
| Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets
Component annotation with string value reference set (foundation metadata concept)
FHIR