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

• SNOMED CT Concept\Clinical finding\...
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, 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\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, 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\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of limb structure\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of blood, lymphatics and immune system\Blood disease\...
• \Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Oedema\Edema of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Oedema\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of head and neck region\Head finding\...
• \Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Blood disease\Platelet disorder\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Hereditary thrombocytopenic disorder\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of extremity\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder characterised by oedema\Lymphoedema\Lymphoedema of limb\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital thrombocytopenia\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Primary lymphoedema\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphoedema\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Developmental delay\Global developmental delay\Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome

Status: current, Primitive. 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	Active	Case insensitive	SNOMED CT core
4635273019	Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
4635274013	Takenouchi Kosaki syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
4635275014	Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome (disorder)	en	Fully specified name	Active	Case insensitive	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	Case sensitive	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	Case sensitive	SNOMED CT core

Expanded Value Set

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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