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\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

\Mass of body structure\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\...

\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

\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)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anemia\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

\Musculoskeletal finding\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Mass of musculoskeletal structure\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\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\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of cellular component of blood (disorder)\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of cellular component of blood (disorder)\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anemia\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\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\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Malignant neoplastic disease (disorder)\Sarcoma (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Neoplasm and/or hamartoma (disorder)\Neoplastic disease\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood (disorder)\Hereditary red blood cell disorder (disorder)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Red blood cell disorder\Hereditary red blood cell disorder (disorder)\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Red blood cell disorder\Non-anaemic red cell disorder\Macrocytosis - no anemia\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Malignant neoplasm of skeletal system (disorder)\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Neoplasm of musculoskeletal system (disorder)\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\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\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Neoplasm of skeletal system (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Neoplasm of bone\Malignant neoplasm of bone (disorder)\Sarcoma of bone (disorder)\Osteosarcoma of bone\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome

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

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

3499951011 Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3499952016 Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3957061000052114 syndrom med osteosarkom, missbildningar i extremiteter och erytroid makrocytos sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Congenital anomaly of limb	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Macrocytosis - no anemia	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Osteosarcoma of bone	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Hereditary red blood cell disorder (disorder)	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Associated morphology	osteosarkom	false	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Finding site	Bone structure	true	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	5
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Finding site	Limb structure	false	Inferred relationship	Some	5
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Occurrence	Congenital	false	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Associated morphology	osteosarkom	false	Inferred relationship	Some	4
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Finding site	Bone structure	false	Inferred relationship	Some	4
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Finding site	Erythrocyte	false	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	3
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Finding site	Limb structure	true	Inferred relationship	Some	2
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Finding site	Erythrocyte	true	Inferred relationship	Some	1
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Disorder of bone development (disorder)	false	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome	Associated morphology	Osteosarcoma (morphologic abnormality)	true	Inferred relationship	Some	3

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
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
3499951011	Syndrome characterized by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anemia. It has been described in three out of nine children from one family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3499952016	Syndrome characterised by the association of osteosarcoma, limb anomalies (clinodactyly with brachymesophalangia, bilateral radioulnar synostosis and absence of one digital ray of the foot) and red cell macrocytosis without anaemia. It has been described in three out of nine children from one family.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3957061000052114	syndrom med osteosarkom, missbildningar i extremiteter och erytroid makrocytos	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)