725141006: Atelosteogenesis type 1 (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 1 (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 1 (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 1 (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 1 (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 1 (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 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (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 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (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 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (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 1 (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Atelosteogenesis\Atelosteogenesis type 1 (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 1 (disorder)
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 1 (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 1 (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (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 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 1 (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 1 (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 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (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 1 (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 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (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 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 1 (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 1 (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (disorder)
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (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

3440650017 Atelosteogenesis type 1 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440651018 Atelosteogenesis type 1 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440652013 Atelosteogenesis type I en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3440653015 Giant cell chondrodysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3440654014 A perinatally lethal skeletal dysplasia with manifestations of severe short-limbed dwarfism, joint dislocations, clubfeet along with distinctive facies and radiographic findings. Affected neonates are stillborn or die rapidly after birth. Craniofacial dysmorphism has characteristics of prominent forehead, hypertelorism, a depressed nasal bridge with a grooved tip, micrognathia and frequently a cleft palate. There is a continuum with overlapping clinical findings between atelosteogenesis I, atelosteogenesis III and boomerang dysplasia. This disease results from heterozygous mutations in exons 2-5 and 27-33 of the gene encoding filamin B (FLNB) located to 3p14. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

887361000172112 AO1 - atélostéogenèse type I fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

988731000172111 atélostéogenèse type I fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

922451000172118 AO1 - atelosteogenese I nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

1003731000172114 atelosteogenese I nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atelosteogenesis type 1 (disorder)	Is a	Atelosteogenesis	true	Inferred relationship	Some
Atelosteogenesis type 1 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Atelosteogenesis type 1 (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Atelosteogenesis type 1 (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	2
Atelosteogenesis type 1 (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Atelosteogenesis type 1 (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Atelosteogenesis type 1 (disorder)	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Atelosteogenesis type 1 (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	1
Atelosteogenesis type 1 (disorder)	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Atelosteogenesis type 1 (disorder)	Associated morphology	Dislocation	true	Inferred relationship	Some	2
Atelosteogenesis type 1 (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	2
Atelosteogenesis type 1 (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Atelosteogenesis type 1 (disorder)	Clinical course	Progressive (qualifier value)	true	Inferred relationship	Some	3
Atelosteogenesis type 1 (disorder)	Due to	Spontaneous event (event)	true	Inferred relationship	Some	4
Atelosteogenesis type 1 (disorder)	Associated morphology	Damage	false	Inferred relationship	Some	5
Atelosteogenesis type 1 (disorder)	Is a	Bone injury	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets