733064004: Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\...
• \Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Finding of blood, lymphatics and immune system\Disorder of cellular component of blood (disorder)\...
• \Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Red blood cell disorder\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anaemia\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of limb\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anaemia\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Sarcoma (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Sarcoma (disorder)\Osteosarcoma (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anaemia\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Neoplasm of musculoskeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Developmental disorder\Developmental hereditary disorder\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
5403701016	A rare genetic disease characterized by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anemia. There have been no further descriptions in the literature since 1977.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5403702011	A rare genetic disease characterised by the association of osteosarcoma with limb anomalies (such as bilateral radioulnar synostosis and clinodactyly, as well as other abnormalities of the hands and feet) and erythroid macrocytosis without anaemia. There have been no further descriptions in the literature since 1977.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498656013	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498657016	OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3498658014	Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3498659018	OSLAM syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
6425771000241117	syndrome de OSLAM (osteosarcoma, limb anomalies, erythroid macrocytosis)	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6425781000241115	syndrome d'ostéosarcome, anomalies des membres et macrocytose érythroïde	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3427411001000111	OSLAM-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

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

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