205402004: arthrogryposis multiplex congenita (aandoening)

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

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

\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\Arthrogryposis multiplex congenita
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2023. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Arthrogryposis multiplex congenita	Is a	Arthrogryposis	true	Inferred relationship	Some
Arthrogryposis multiplex congenita	Interprets	Range of joint movement	true	Inferred relationship	Some	2
Arthrogryposis multiplex congenita	Has interpretation	Decreased	true	Inferred relationship	Some	2
Arthrogryposis multiplex congenita	Occurrence	Congenital	true	Inferred relationship	Some	1
Arthrogryposis multiplex congenita	Finding site	Structure of joint region	true	Inferred relationship	Some	1
Arthrogryposis multiplex congenita	Associated morphology	Contracture	true	Inferred relationship	Some	1
Arthrogryposis multiplex congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Adducted thumbs and arthrogryposis syndrome Christian type (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Arthrogryposis multiplex congenita and whistling face syndrome (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Arthrogryposis hyperkeratosis syndrome lethal form (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Pena-Shokeir syndrome type I (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Congenital lethal myopathy Compton North type	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Neurogenic arthrogryposis multiplex congenita (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
X-linked distal arthrogryposis multiplex congenita (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Intellectual disability, developmental delay, contracture syndrome (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Marden Walker syndrome	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Kuskokwim syndrome	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Van den Ende-Gupta syndrome (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Prenatal-onset spinal muscular atrophy with congenital bone fractures (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Microphthalmia, microtia, fetal akinesia syndrome	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Antenatal multi-minicore disease with arthrogryposis multiplex congenita	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Congenital muscular dystrophy with arthrogryposis multiplex congenita	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Distal arthrogryposis type 5D (disorder)	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 12	Is a	True	Arthrogryposis multiplex congenita	Inferred relationship	Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
314950010	Arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2752036018	Arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171544017	Multiple congenital arthrogryposis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5171545016	AMC - arthrogryposis multiplex congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14281671000146114	arthrogryposis multiplex congenita (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14281681000146111	AMC	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14281691000146113	arthrogryposis multiplex congenita	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14301301000146115	aangeboren contracturen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14301311000146118	multipele congenitale contracturen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
14301321000146111	MCC	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
5171546015	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.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
14301291000146119	Dit is een verzamelnaam voor verschillende aangeboren aandoeningen met als kenmerk verstijving of standafwijkingen in meerdere gewrichten.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)