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254055004: Atelosteogenesis type 2 (disorder)

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

\Disease\Disorder of joint region\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of joint region\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Atelosteogenesis type 2
\Disease\Traumatic or non-traumatic injury (disorder)\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 2
\Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 2
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 2
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Atelosteogenesis type 2
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Atelosteogenesis\Atelosteogenesis type 2
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Atelosteogenesis type 2

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Atelosteogenesis type 2	Is a	Atelosteogenesis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Associated morphology	Dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Finding site	Bone structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Associated morphology	Congenital dysplasia	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Atelosteogenesis type 2	Associated morphology	Dislocation	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atelosteogenesis type 2	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Atelosteogenesis type 2	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Finding site	Skeletal system structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Is a	Disorder of bone development	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Atelosteogenesis type 2	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Atelosteogenesis type 2	Due to	Spontaneous event (event)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Atelosteogenesis type 2	Associated morphology	Damage	false	Inferred relationship	Existential restriction modifier (core metadata concept)	5
Atelosteogenesis type 2	Is a	Bone injury	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
378199019	Atelosteogenesis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378200016	Atelosteogenesis de la Chapelle type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644894015	Atelosteogenesis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378199019	Atelosteogenesis type 2	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
378199019	Atelosteogenesis type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
378200016	Atelosteogenesis de la Chapelle type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644894015	Atelosteogenesis type 2 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
644894015	Atelosteogenesis type 2 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3385361001000111	Atelosteogenesis Typ II	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081541000241117	atélostéogénèse de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
5081541000241117	atélostéogénèse de type 2	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3385361001000111	Atelosteogenesis Typ II	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module