725142004: Atelosteogenesis type 3 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (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\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Nontraumatic injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 3 (disorder)
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (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\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 3 (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Atelosteogenesis type 3 (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 3 (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 3 (disorder)

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
3439417015	Atelosteogenesis type 3 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439418013	Atelosteogenesis type 3	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3439419017	Atelosteogenesis type III	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3439420011	A skeletal dysplasia with characteristics of short limbs, dysmorphic facies and diagnostic radiographic findings. Less than 25 affected patients have been reported. Atelosteogenesis III results from missense mutations or small in-frame deletions in the FLNB gene reported in exons 2-5, 13 and 27-33 resulting in the translation of filamin B protein with altered biochemical properties	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

Back to Start