771511005: Thrombocythemia with distal limb defect (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Viscus structure finding (finding)\Abdominal organ finding\...
• \Abdominal organomegaly\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Spleen finding\Thrombocythemia with distal limb defect
• \Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Abdominal organomegaly\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Abdominal organomegaly\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Spleen finding\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Abdominal organomegaly\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disease of abdomen\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Abdominal organomegaly\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood\Platelet disorder\Thrombocytosis\Thrombocythemia with distal limb defect
• \Finding of blood, lymphatics and immune system\Spleen finding\Thrombocythemia with distal limb defect
• \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 above reference range (finding)\Thrombocytosis\Thrombocythemia with distal limb defect
• \Measurement finding\Measurement finding outside reference range\Measurement finding above reference range (finding)\Platelet count above reference range (finding)\Thrombocytosis\Thrombocythemia with distal limb defect
• \Measurement finding\Finding of platelet count (finding)\Platelet count outside reference range\Platelet count above reference range (finding)\Thrombocytosis\Thrombocythemia with distal limb defect
• \Haematopoietic system finding\Hemostatic system finding (finding)\...
• \Finding of platelet count (finding)\Platelet count outside reference range\Platelet count above reference range (finding)\Thrombocytosis\Thrombocythemia with distal limb defect
• \Platelet finding\Thrombocytosis\Thrombocythemia with distal limb defect
• \Functional finding\Disorder of hemostatic system\Platelet disorder\...
• \Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Thrombocytosis\Thrombocythemia with distal limb defect
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Thrombocythemia with distal limb defect
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Thrombocythemia with distal limb defect
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Thrombocythemia with distal limb defect
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Thrombocythemia with distal limb defect
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Thrombocythemia with distal limb defect
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Thrombocythemia with distal limb defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of the haematopoietic system\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of cellular component of blood\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Disease\Disorder of cellular component of blood\Platelet disorder\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Disease\Disorder of cellular component of blood\Platelet disorder\Thrombocytosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Disease\Disorder of hemostatic system\Platelet disorder\Thrombocytosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of immune structure\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of immune structure\Disorder of lymphoid system (disorder)\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Disorder of lymphoid system (disorder)\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of hematopoietic structure (disorder)\Congenital anomaly of the haematopoietic system\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Disorder of limb\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Abdominal organomegaly\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of abdomen\Disorder of spleen\Splenomegaly\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Congenital anomaly of abdomen\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Dysostosis\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital dysplasia of limb (disorder)\Thrombocythemia with distal limb defect
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of the haematopoietic system\Congenital anomaly of spleen\Congenital splenomegaly (disorder)\Thrombocythemia with distal limb defect

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
3706560019	Familial thrombocytosis with transverse limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706561015	Thrombocythemia with distal limb defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706562010	Thrombocythemia with distal limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706563017	Hereditary thrombocytosis with transverse limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706564011	Thrombocythaemia with distal limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706565012	A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3706560019	Familial thrombocytosis with transverse limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706561015	Thrombocythemia with distal limb defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706562010	Thrombocythemia with distal limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706563017	Hereditary thrombocytosis with transverse limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706564011	Thrombocythaemia with distal limb defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3706565012	A rare genetic syndrome with limb reduction defects with characteristics of thrombocytosis, unilateral transverse limb defects (ranging from absence of phalanges to absence of hand or forearm) and splenomegaly.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3386911001000117	Hereditäre Thrombozytose mit transversalen Extremitätendefekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934101000172117	thrombocytose familiale avec anomalie réductionnelle transverse des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974901000172117	thrombocytémie avec anomalies distales des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
934101000172117	thrombocytose familiale avec anomalie réductionnelle transverse des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974901000172117	thrombocytémie avec anomalies distales des membres	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3386911001000117	Hereditäre Thrombozytose mit transversalen Extremitätendefekt	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

This concept is not in any reference sets

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