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 |
| 3316226013 | Waters-West syndrome is characterized by the association of lethal non-spherocytic, non-immune hemolytic anemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3316227016 | Waters-West syndrome is characterised by the association of lethal non-spherocytic, non-immune haemolytic anaemia with abnormalities of the external genitalia (micropenis and hypospadias), flat occiput, dimpled earlobes, deep plantar creases, and increased space between the first and second toes. It has been described only once in two brothers who died a few hours after birth. The second-born infant had massive ascites and hepatosplenomegaly. The mother had two spontaneous abortions but gave birth to a normal girl, suggesting an autosomal or X-linked recessive mode of inheritance. | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
| 3888621000052114 | syndrom med dödlig hemolytisk anemi och missbildning i könsorgan | sv | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT Sweden NRC maintained module (core metadata concept) |
| 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 | erytropeni | 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 | utvecklingsabnormitet | 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 |
This concept is not in any reference sets
FHIR