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

• SNOMED CT Concept\Clinical finding (finding)\...
• \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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Head finding (finding)\Disorder of head (disorder)\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
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of limb structure\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Oedema\Edema of extremity (finding)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Oedema\Disorder characterized by edema\Lymphoedema\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Procedure related finding\Evaluation finding\...
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Blood cell count outside reference range\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Measurement finding outside reference range\Measurement finding below reference range (finding)\Cytopenia\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Measurement finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Hematopoietic system finding\Hemostatic system finding\Platelet count - finding\Platelet count outside reference range\Platelet count below reference range (finding)\Thrombocytopenic disorder\...
• \Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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 of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of foetus and/or newborn\Congenital disease (disorder)\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\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of cellular component of blood (disorder)\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Congenital thrombocytopenia (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytopenic disorder\Megakaryocytic thrombocytopenia\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Inherited platelet disorder\Hereditary thrombocytopenic disorder (disorder)\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of limb (disorder)\Lymphedema of limb (disorder)\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Disorder of head (disorder)\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\Disorder of head (disorder)\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\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Primary lymphedema\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Developmental hereditary disorder\Hereditary lymphedema\Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\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\Developmental disorder\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\Developmental disorder\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\Developmental disorder\Developmental delay\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
5399382015	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by global developmental delay, intellectual disability, macrothrombocytopenia, lymphedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). 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
5399383013	A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterised by global developmental delay, intellectual disability, macrothrombocytopenia, lymphoedema, and dysmorphic facial features (like synophrys, ptosis, eversion of the lateral portion of the lower eyelid, and thin upper lip, among others). 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

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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