725141006: Atelosteogenesis type 1 (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding by site\Finding of body region\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 1 (disorder)
\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Finding of body region\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Finding of body region\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Disorder by body site (disorder)\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 1 (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Disorder by body site (disorder)\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)
\Finding by site\Disorder by body site (disorder)\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 1 (disorder)
\Finding by site\Disorder by body site (disorder)\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)
\Finding by site\Disorder by body site (disorder)\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)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Disorder by body site (disorder)\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)
\Finding by site\Disorder by body site (disorder)\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)
\Finding by site\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (disorder)
\Finding by site\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Atelosteogenesis type 1 (disorder)
\Finding by site\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 1 (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\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 1 (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\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)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\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)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Finding by site\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\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 AND/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\Disorder by body site (disorder)\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 1 (disorder)
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder by body site (disorder)\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder by body site (disorder)\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\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 1 (disorder)
\Disease\Disorder by body site (disorder)\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 by body site (disorder)\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 by body site (disorder)\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 by body site (disorder)\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 by body site (disorder)\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 by body site (disorder)\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\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 1 (disorder)
\Disease\Congenital disease\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	Reference Sets
3440650017	Atelosteogenesis type 1 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3440651018	Atelosteogenesis type 1	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Preferred (foundation metadata concept)
3440652013	Atelosteogenesis type I	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
3440653015	Giant cell chondrodysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core	GB English: Acceptable (foundation metadata concept)
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	GB English: Preferred (foundation metadata concept)
3991881000052112	atelosteogenes typ 1	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)	Swedish [International Organization for Standardization 639-1 code sv] language reference set (foundation metadata concept): Preferred (foundation 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	kongenital dysplasi	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	kongenital dysplasi	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	true	Inferred relationship	Some	5

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets