111246005: Arthrogryposis (disorder)

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

\Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis

\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis
\Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arthrogryposis	Is a	Contracture of joint	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Is a	Congenital anomaly of joint	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Arthrogryposis	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Arthrogryposis	Is a	Congenital disease	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Is a	Contracture of multiple joints	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Arthrogryposis	Is a	Congenital deformity (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Arthrogryposis	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Arthrogryposis	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Inherited arthrogryposis	Is a	True	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Akabane virus disease	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Amyoplasie, kongenitale	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Arthrogryposis, unspecified	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Other arthrogryposis syndromes	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital arthrogryposis caused by teratogen (disorder)	Is a	True	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital arthrogryposis due to Akabane virus	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital flexion contracture of hip	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital extension contracture of the knee	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A group of rare arthrogryposis syndromes with characteristics of congenital contractures of two or more areas of the body, primarily involving the hands and feet, while the proximal joints are largely spared, in the absence of primary neurologic and/or muscle disease affecting limb function. Diagnostic features include camptodactyly or pseudocamptodactyly, hypoplastic or absent flexion creases, overriding fingers, ulnar deviation at the wrist, talipes equinovarus, calcaneovalgus deformities, vertical talus, and/or metatarsus varus.	Is a	True	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital generalized flexion contractures of lower limb joints	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital contracture of toe joint	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital flexion contracture of knee (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital abduction contracture of hip	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital neuropathy with arthrogryposis multiplex congenita	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 1 (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 2	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 3 (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A form of arthrogryposis multiplex congenita characterized by congenital immobility of the limbs with fixation of multiple joints and muscle wasting. This condition is secondary to neurogenic muscular atrophy.	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Contracture with ectodermal dysplasia and orofacial cleft syndrome	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal congenital contracture syndrome type 5	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Multiple pterygium syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Antenatal multi-minicore disease with arthrogryposis multiplex congenita	Is a	False	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
A group of disorders with characteristics of congenital limb contractures manifesting as limitation of movement of multiple limb joints at birth that is usually non-progressive and may include muscle weakness and fibrosis. This disorder is always associated with decreased intrauterine fetal movement, which leads secondarily to the contractures.	Is a	True	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)
Congenital amyoplasia	Is a	True	Arthrogryposis	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
178465011	Arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629629010	Arthrogryposis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
178465011	Arthrogryposis	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
178465011	Arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
629629010	Arthrogryposis (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
629629010	Arthrogryposis (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2161656011	Guerin-Stern syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3769034018	Arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3769038015	Congenital multiple arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3769051013	AMC-Arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4749531000241110	arthrogrypose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
4749531000241110	arthrogrypose	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module