715565004: Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

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

\Deformity (finding)\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

\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\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\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\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Finding of movement (finding)\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Motor neuron disease\Lower motor neuron disease\Anterior horn cell disease (disorder)\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	amyoplasie congénitale de Sheldon	false	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Anterior horn cell disease (disorder)	true	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Structure of nervous system (body structure)	true	Inferred relationship	Some	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure	false	Inferred relationship	Some	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Pathological process (attribute)	Pathological developmental process	false	Inferred relationship	Some	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	false	Inferred relationship	Some	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	true	Inferred relationship	Some	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Some	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Has interpretation	Decreased	true	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Arthrogryposis multiplex congenita	true	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3303039019	Vuopala disease	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303040017	Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303041018	Lethal arthrogryposis co-occurrent with anterior horn cell disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303042013	Lethal arthrogryposis with anterior horn cell disease	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
14041881000172115	maladie de Vuopala	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
14041891000172117	arthrogrypose létale concomitante d'un syndrome de la corne antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
14041901000172118	syndrome d'arthrogrypose et maladie de la corne antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4257021000172112	Vuopala-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
4257031000172110	ziekte van Vuopala	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4257041000172115	syndroom van letale arthrogryposis gelijktijdig met voorhoornaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4257051000172118	syndroom van letale artrogrypose gelijktijdig met voorhoornaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4257061000172116	LAAHD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)