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\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone injury\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

\Disease\Disorder of joint region\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder resulting from physical damage to the body\Nontraumatic injury (disorder)\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder resulting from physical damage to the body\Injury of musculoskeletal system\Bone injury\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder resulting from physical damage to the body\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Developmental disorder\Developmental hereditary disorder\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia\Atelosteogenesis (disorder)\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.

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

5403415015 A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5403416019 A rare skeletal dysplasia characterised by short limbs dysmorphic facies and diagnostic radiographic findings. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

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

5488581000241111 atélostéogénèse de type 3 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3451541001000116 Atelosteogenesis Typ III de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Is a	Atelosteogenesis (disorder)	true	Inferred relationship	Some
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Occurrence	Congenital	false	Inferred relationship	Some	2
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Finding site	Bone structure	false	Inferred relationship	Some	2
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Occurrence	Congenital	true	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Finding site	Bone structure	true	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Associated morphology	Dislocation	true	Inferred relationship	Some	2
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	2
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Clinical course	Progressive	true	Inferred relationship	Some	3
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Due to	Spontaneous event (event)	true	Inferred relationship	Some	4
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Associated morphology	Damage	false	Inferred relationship	Some	5
A rare skeletal dysplasia characterized by short limbs dysmorphic facies and diagnostic radiographic findings.	Is a	Bone injury	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)