719402008: Lethal hemolytic anemia and genital anomaly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos d'une structure du tronc\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anémie\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation à propos du sang, des lymphatiques et du système immunitaire\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \constatation fonctionnelle\Red blood cell destruction finding\Hemolysis\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\Hemolytic disorder\Hemolytic anemia\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\affection d'un système corporel\anomalie de la lignée rouge\Hereditary red blood cell disorder (disorder)\anémie hémolytique héréditaire\Hereditary nonspherocytic haemolytic anaemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Disorder of abdominopelvic segment of trunk\trouble de l'appareil génito-urinaire\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\affection du tronc\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\Congenital disease\Congenital anemia\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale d'un membre inférieur et/ou de la ceinture pelvienne\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\anomalies congénitales génito-urinaires\Lethal hemolytic anemia and genital anomaly syndrome (disorder)

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

Expanded Value Set

This concept is not in any reference sets

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