Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core
Descriptions:
Id | Description | Lang | Type | Status | Case? | Module |
5099370014 | Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | en | Synonym (core metadata concept) | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5099371013 | Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) | en | Fully specified name | Active | Entire term case insensitive (core metadata concept) | SNOMED CT core |
5099376015 | A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia and wide mouth). | en | Definition | Active | Entire term case sensitive (core metadata concept) | SNOMED CT core |
Outbound Relationships | Type | Target | Active | Characteristic | Refinability | Group | Values |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Bilateral renal hypoplasia | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Developmental hereditary disorder | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Digestive system hereditary disorder (disorder) | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Hereditary disorder of nervous system | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Hereditary nephropathy (disorder) | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Congenital atresia of duodenum | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Congenital anomaly of brain | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Multiple malformation syndrome with facial defects as major feature | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Is a | Autosomal recessive hereditary disorder | true | Inferred relationship | Some | ||
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 1 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Finding site | Brain structure | true | Inferred relationship | Some | 1 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 1 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 1 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 2 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Finding site | Face structure | true | Inferred relationship | Some | 2 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Associated morphology | Morphologically abnormal structure (morphologic abnormality) | true | Inferred relationship | Some | 2 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 2 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 3 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Finding site | Left kidney structure (body structure) | true | Inferred relationship | Some | 3 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 3 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 3 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 4 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Finding site | Right kidney structure | true | Inferred relationship | Some | 4 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Associated morphology | Hypoplasia | true | Inferred relationship | Some | 4 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 4 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Occurrence | Congenital | true | Inferred relationship | Some | 5 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Finding site | Duodenal structure | true | Inferred relationship | Some | 5 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Associated morphology | Congenital atresia | false | Inferred relationship | Some | 5 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Pathological process (attribute) | Pathological developmental process | true | Inferred relationship | Some | 5 | |
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome | Associated morphology | Atresia (morphologic abnormality) | true | Inferred relationship | Some | 5 |
Inbound Relationships | Type | Active | Source | Characteristic | Refinability | Group |
Reference Sets