1172685001: Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)

• SNOMED CT Concept\constatation clinique\...
• \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)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\cytopénie (constatation)\Platelet count below reference range (finding)\trouble thrombocytopénique\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range (finding)\trouble thrombocytopénique\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \constatation à propos de la structure d'un membre\œdème d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \constatation à propos de la structure d'un membre\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly 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\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\trouble thrombocytopénique\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Oedema\œdème d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \constatation à propos d'une région de la tête et du cou\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \constatation fonctionnelle\Disorder of haemostatic system\Platelet disorder\...
• \trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \trouble thrombocytopénique\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\trouble thrombocytopénique\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\anomalie des éléments figurés du sang (trouble)\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\trouble thrombocytopénique\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\troubles héréditaires des éléments figurés du sang\anomalie plaquettaire héréditaire\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\affection d'une extrémité\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\affection d'une extrémité\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\affection de la tête\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\affection de la tête\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Primary lymphedema\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\lymphœdème héréditaire\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\trouble du développement\retard de développement\Global developmental delay\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
4635272012	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635273019	Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635274013	Takenouchi Kosaki syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635275014	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4635276010	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, intellectual disability, macrothrombocytopenia, lymphoedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4635277018	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (for example synophrys, ptosis, eversion of the lateral portion of the lower eyelid, thin upper lip). Additional reported manifestations include cardiac and genitourinary anomalies, sensorineural hearing loss, ophthalmologic abnormalities, skeletal anomalies and immunodeficiency. Brain imaging may show enlarged ventricles, cerebellar atrophy or white matter changes.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

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