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111246005: artrogrypose (aandoening)

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

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

\Finding of movement (finding)\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis
\Finding of movement (finding)\Movement disorder\Contracture of joint\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 (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\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	Some
Arthrogryposis	Is a	Congenital anomaly of joint	false	Inferred relationship	Some
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Some
Arthrogryposis	Associated morphology	Contracture	true	Inferred relationship	Some	1
Arthrogryposis	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Arthrogryposis	Finding site	Brain structure	false	Inferred relationship	Some
Arthrogryposis	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Arthrogryposis	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	1
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Some	3
Arthrogryposis	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	3
Arthrogryposis	Is a	Congenital disease (disorder)	false	Inferred relationship	Some
Arthrogryposis	Occurrence	Congenital	false	Inferred relationship	Some	2
Arthrogryposis	Associated morphology	Contracture	false	Inferred relationship	Some	2
Arthrogryposis	Finding site	Joint structure	false	Inferred relationship	Some	2
Arthrogryposis	Occurrence	Congenital	true	Inferred relationship	Some	1
Arthrogryposis	Has interpretation	Decreased	true	Inferred relationship	Some	2
Arthrogryposis	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Arthrogryposis	Is a	Contracture of multiple joints	true	Inferred relationship	Some
Arthrogryposis	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Arthrogryposis	Is a	Congenital deformity	true	Inferred relationship	Some
Arthrogryposis	Interprets	Range of joint movement	true	Inferred relationship	Some	2

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Distal arthrogryposis syndrome	Is a	False	Arthrogryposis	Inferred relationship	Some
Inherited arthrogryposis	Is a	True	Arthrogryposis	Inferred relationship	Some
Akabane virus disease	Is a	False	Arthrogryposis	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Arthrogryposis	Inferred relationship	Some
amyoplasia congenita (aandoening)	Is a	False	Arthrogryposis	Inferred relationship	Some
Arthrogryposis, unspecified	Is a	False	Arthrogryposis	Inferred relationship	Some
Other arthrogryposis syndromes	Is a	False	Arthrogryposis	Inferred relationship	Some
Congenital arthrogryposis caused by teratogen (disorder)	Is a	True	Arthrogryposis	Inferred relationship	Some
Congenital arthrogryposis due to Akabane virus	Is a	False	Arthrogryposis	Inferred relationship	Some
Congenital flexion contracture of hip	Is a	False	Arthrogryposis	Inferred relationship	Some
Congenital extension contracture of the knee	Is a	False	Arthrogryposis	Inferred relationship	Some
Distal arthrogryposis syndrome	Is a	True	Arthrogryposis	Inferred relationship	Some
Congenital generalized flexion contractures of lower limb joints	Is a	False	Arthrogryposis	Inferred relationship	Some
Congenital contracture of toe joint	Is a	False	Arthrogryposis	Inferred relationship	Some
Familial arthrogryposis-cholestatic hepatorenal syndrome	Is a	False	Arthrogryposis	Inferred relationship	Some
Congenital flexion contracture of knee (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Congenital abduction contracture of hip	Is a	False	Arthrogryposis	Inferred relationship	Some
congenitale neuropathie met arthrogryposis multiplex congenita	Is a	False	Arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 1 (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 2 (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 3 (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Hereditary inclusion body myopathy, joint contracture, ophthalmoplegia syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Lethal congenital contracture syndrome type 5	Is a	False	Arthrogryposis	Inferred relationship	Some
Multiple pterygium syndrome	Is a	False	Arthrogryposis	Inferred relationship	Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder)	Is a	False	Arthrogryposis	Inferred relationship	Some
Antenatal multi-minicore disease with arthrogryposis multiplex congenita	Is a	False	Arthrogryposis	Inferred relationship	Some
Arthrogryposis multiplex congenita	Is a	True	Arthrogryposis	Inferred relationship	Some
Congenital amyoplasia (disorder)	Is a	True	Arthrogryposis	Inferred relationship	Some

Reference Sets

Dutch pathology simple reference set (foundation metadata concept)

GB English

US English

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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
4586131000146117	artrogrypose	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
4586141000146113	artrogrypose (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)