721883006: Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \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 developmental delay and hypotonia syndrome (disorder)
• \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 developmental delay and hypotonia syndrome (disorder)
• \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 developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of limb structure\Finding of upper limb\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Finding of head and neck region\Head finding (finding)\...
• \Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Finding of bone of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Disorder of forearm (disorder)\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Disorder of upper extremity (disorder)\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of extremity (disorder)\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Failure of differentiation of bones of forearm\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of ulna\Congenital abnormal fusion of ulna\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of upper limb\Congenital anomaly of radius\Congenital abnormal fusion of radius\Radioulnar synostosis\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3326440010	Radioulnar synostosis with developmental delay and hypotonia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326441014	Radioulnar synostosis with developmental delay and hypotonia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3326442019	Der Kaloustian McIntosh Silver syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323160015	An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalized hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3326446016	An extremely rare syndrome with synostosis described in about 4 patients to date with clinical manifestations including congenital unilateral radioulnar synostosis, generalised hypotonia, developmental delay and dysmorphic facial features (long face, prominent nose and ears).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3895481000052117	syndrom med radioulnar synostos, fördröjd utveckling och hypotoni	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

This concept is not in any reference sets

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