725141006: Atelosteogenesis type 1 (disorder)

SNOMED CT Concept\Clinical finding\...

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Atelosteogenesis type 1
\Musculoskeletal finding\Bone finding\Disorder of bone\Bone injury\Atelosteogenesis type 1
\Musculoskeletal finding\Joint finding\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Joint finding\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Injury of musculoskeletal system\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Joint injury\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Chronic arthropathy\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Bone injury\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Multiple dislocations with dysplasia\Atelosteogenesis\Atelosteogenesis type 1
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 1

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

Status: current, Primitive. 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 Case insensitive SNOMED CT core

3440651018 Atelosteogenesis type 1 en Synonym Active Case insensitive SNOMED CT core

3440652013 Atelosteogenesis type I en Synonym Active Initial character case insensitive SNOMED CT core

3440653015 Giant cell chondrodysplasia en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

Expanded Value Set

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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3440650017	Atelosteogenesis type 1 (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3440651018	Atelosteogenesis type 1	en	Synonym	Active	Case insensitive	SNOMED CT core
3440652013	Atelosteogenesis type I	en	Synonym	Active	Initial character case insensitive	SNOMED CT core
3440653015	Giant cell chondrodysplasia	en	Synonym	Active	Case insensitive	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	Case sensitive	SNOMED CT core