{"orpha":262128,"name":"Partial deletion of the long arm of chromosome 16 syndrome","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Partial deletion of chromosome 16q","Partial monosomy of chromosome 16q","Partial monosomy of the long arm of chromosome 16"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-262128/","orphanet_url":"https://www.orpha.net/en/disease/detail/262128","names":{"fr":{"name":"Syndrome de délétion partielle du bras long du chromosome 16","synonyms":["Délétion partielle du chromosome 16q","Monosomie partielle du chromosome 16q","Monosomie partielle du long court du chromosome 16"]},"de":{"name":"Chromosom 16q-Deletion, partielle","synonyms":["Chromosom 16, partielle Deletion des langen Arms","Partielle Monosomie 16q","Partielle Monosomie des langen Arms von Chromosom 16"]},"es":{"name":"Síndrome de deleción parcial del brazo largo del cromosoma 16","synonyms":["Deleción parcial del cromosoma 16q","Monosomía parcial del brazo largo del cromosoma 16","Monosomía parcial del cromosoma 16q"]},"it":{"name":"Sindrome delezione parziale del braccio lungo del cromosoma 16","synonyms":["Delezione parziale del cromosoma 16q","Monosomia parziale del braccio lungo del cromosoma 16","Monosomia parziale del cromosoma 16q"]},"nl":{"name":"Partiële deletie van de lange arm van chromosoom 16-syndroom","synonyms":["Partiële deletie van chromosoom 16q","Partiële monosomie van chromosoom 16q","Partiële monosomie van de lange arm van chromosoom 16"]},"pt":{"name":"Monossomia parcial do braço longo do cromossoma 16"},"pl":{"name":"Zespół częściowej delecji długiego ramienia chromosomu 16","synonyms":["Częściowa delecja chromosomu 16q","Cześciowa monosomia chromosomu 16q","Częściowa monosomia długiego ramienia chromosomu 16"]},"cs":{"name":"Parciální delece dlouhého raménka chromozomu 16","synonyms":["Parciální delece 16q","Parciální monozomie 16q","Parciální monozomie dlouhého raménka chromozomu 16"]},"uk":{"name":"Часткова делеція довгого плеча хромосоми 16","synonyms":["Часткова делеція хромосоми 16q","Часткова моносомія хромосоми 16q","Часткова моносомія довгого плеча хромосоми 16"]},"zh":{"name":"16号染色体长臂部分缺失","synonyms":["16号染色体长臂部分单体"]},"tr":{"name":"16. kromozomun uzun kolunun kısmi delesyonu","synonyms":["16q kromozomunun kısmi delesyonu","16q kromozomunun kısmi monozomisi","16. kromozomun uzun kolunun kısmi monozomisi"]}},"xrefs":[{"source":"ICD-11","code":"LD44.G0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"324314539"},{"source":"MONDO","code":"0016914","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"16914","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4736186","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":261826,"name":"Partial deletion of chromosome 16 syndrome","classifications":[147,156]}],"children":[{"orpha":658540,"name":"16q22 deletion syndrome","type":"Malformation syndrome"},{"orpha":352629,"name":"16q24.1 microdeletion syndrome","type":"Disease"},{"orpha":261250,"name":"16q24.3 microdeletion syndrome","type":"Malformation syndrome"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}