774071007: syndrome de pancytopénie-retard de développement (trouble)

• 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\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Finding of substance level (finding)\Protein level - finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\numération des globules rouges basse (constatation)\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\cytopénie (constatation)\numération des globules rouges basse (constatation)\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \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\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\White blood cell number - finding\White blood cell count abnormal (finding)\Decreased blood leukocyte number (finding)\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Measurement finding\Red blood cell count - finding\RBC count abnormal\numération des globules rouges basse (constatation)\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Hematopoietic system finding\Hemoglobin level outside reference range (finding)\Hemoglobin low\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Evaluation finding\Hematopoietic system finding\constatation sur le système hémostatique\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \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 white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \anémie\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \anémie\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \anémie\anémie causée par une production diminuée d'érythrocytes\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \anomalie de la lignée blanche\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Platelet disorder\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Platelet disorder\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Pancytopenia with developmental delay syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Pancytopenia with developmental delay syndrome
• \Disease\trouble de la fonction immunitaire\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\trouble de la fonction immunitaire\anomalie de la lignée blanche\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anémie\anémie causée par une production diminuée d'érythrocytes\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\anomalie de la lignée blanche\Leukopenia\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\pancytopénie\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système hématopoïétique\Bone marrow disorder\Aplastic anaemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\affection d'un système corporel\affection du système hématopoïétique\anomalie congénitale du système hématopoïétique\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Pancytopenia with developmental delay syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder (disorder)\Pancytopenia with developmental delay syndrome
• \Disease\Congenital disease\Congenital thrombocytopenia (disorder)\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Congenital disease\Congenital malformation\anomalie congénitale du système hématopoïétique\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\Congenital disease\Congenital anemia\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Pancytopenia with developmental delay syndrome
• \Disease\trouble du développement\Congenital malformation\anomalie congénitale du système hématopoïétique\Constitutional aplastic anaemia\Pancytopenia with developmental delay syndrome
• \Disease\trouble du développement\retard de développement\Pancytopenia with developmental delay syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3727876017	Trilineage bone marrow failure with developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3727877014	Pancytopenia with developmental delay syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3727878016	Pancytopenia with developmental delay syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
772201000241115	syndrome de pancytopénie-retard de développement (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
903011000172112	syndrome de pancytopénie-retard de développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3727879012	A rare genetic hematologic disorder characterized by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3727880010	A rare genetic haematologic disorder characterised by progressive trilineage bone marrow failure (with hypocellularity), developmental delay with learning disabilities and microcephaly. Mild facial dysmorphism and hypotonia have also been reported. There is evidence the disease is caused by homozygous mutation in the ERCC6L2 gene on chromosome 9q22.	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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