721882001: Radioulnar synostosis with amegakaryocytic thrombocytopenia 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\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Abnormal blood cell count\Cytopenia\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Measurement finding outside reference range\Measurement finding below reference range\Cytopenia\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Measurement finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Evaluation finding\Haematopoietic system finding\Haemostatic system finding\Platelet count - finding\Platelet count abnormal\Platelet count below reference range\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Finding of limb structure\Finding of upper limb\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Platelet disorder\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Platelet disorder\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Functional finding\Disorder of haemostatic system\Platelet disorder\...

\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Blood disease\Platelet disorder\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Blood disease\Platelet disorder\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Thrombocytopenia\Amegakaryocytic thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of haemostatic system\Platelet disorder\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Inherited platelet disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Disorder of forearm\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Disorder of upper limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital thrombocytopenia\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Amegakaryocytic thrombocytopenia with congenital malformation\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323085014 Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3323086010 Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome en Synonym Active Case insensitive SNOMED CT core

3323087018 ATRUS syndrome en Synonym Active Case sensitive SNOMED CT core

3323088011 Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15). en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Finding site	Bone structure of radius and/or ulna	false	Inferred relationship	Some	1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Interprets	Haemostatic function	false	Inferred relationship	Some	2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Functional finding	false	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Has interpretation	Abnormal	false	Inferred relationship	Some	2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Has interpretation	Abnormal	true	Inferred relationship	Some	2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Interprets	Haemostatic function	true	Inferred relationship	Some	2
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Finding site	Bone structure of radius	true	Inferred relationship	Some	1
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Associated morphology	Congenital abnormal fusion	true	Inferred relationship	Some	3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Finding site	Bone structure of ulna	true	Inferred relationship	Some	3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Radioulnar synostosis	true	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Inherited platelet disorder	true	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Amegakaryocytic thrombocytopenia with congenital malformation	true	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Has definitional manifestation	Platelet count below reference range	false	Inferred relationship	Some
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Interprets	Platelet count	true	Inferred relationship	Some	4
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Some	5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Finding site	Bone structure of radius and/or ulna	false	Inferred relationship	Some	5
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	Platelet count below reference range	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323085014	Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3323086010	Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3323087018	ATRUS syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3323088011	Syndrome with the association of proximal fusion of the radius and ulna and congenital amegakaryocytic thrombocytopenia. Less than 10 cases have been reported in the literature so far. The syndrome is transmitted as an autosomal dominant trait and is caused by mutations in the HOXA11 gene (7p15).	en	Definition	Active	Case sensitive	SNOMED CT core