1268409009: Congenital radioulnar synostosis (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Radioulnar synostosis\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Finding of bone of upper limb\Radioulnar synostosis\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Radioulnar synostosis\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Finding of limb structure (finding)\Finding of upper limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis

\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Finding of bone of upper limb\Radioulnar synostosis\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Radioulnar synostosis\Congenital radioulnar synostosis
\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\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\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\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\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\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Radioulnar synostosis\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\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\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\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\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\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\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Radioulnar synostosis\Congenital radioulnar synostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Disorder of forearm (disorder)\Radioulnar synostosis\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of limb\Disorder of upper limb (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm (disorder)\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna (disorder)\Congenital abnormal fusion of ulna (disorder)\Congenital radioulnar synostosis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Congenital radioulnar synostosis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Mar 2023. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5179663013 Congenital radioulnar synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5179664019 Congenital radioulnar synostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5179663013 Congenital radioulnar synostosis en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5179664019 Congenital radioulnar synostosis (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital radioulnar synostosis	Is a	Failure of differentiation of bones of forearm (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital radioulnar synostosis	Is a	Radioulnar synostosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital radioulnar synostosis	Is a	Congenital abnormal fusion of radius	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital radioulnar synostosis	Is a	Congenital abnormal fusion of ulna (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital radioulnar synostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital radioulnar synostosis	Finding site	Bone structure of ulna	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital radioulnar synostosis	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital radioulnar synostosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital radioulnar synostosis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital radioulnar synostosis	Finding site	Bone structure of radius	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital radioulnar synostosis	Associated morphology	Congenital abnormal fusion	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital radioulnar synostosis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Congenital radioulnar synostosis	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Congenital radioulnar synostosis	Associated morphology	Abnormally fused structure (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Radioulnar synostosis with microcephaly and scoliosis syndrome	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Capra DeMarco syndrome	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Radioulnar synostosis with amegakaryocytic thrombocytopenia syndrome	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Radioulnar synostosis of bilateral upper limbs	Is a	False	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Radioulnar synostosis and dislocation of radial head	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
An extremely rare genetic congenital joint formation defect disorder with characteristics of unilateral or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities namely oligo-ectrosyndactyly may be associated.	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital radioulnar synostosis of left forearm (disorder)	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital radioulnar synostosis of right forearm (disorder)	Is a	True	Congenital radioulnar synostosis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets