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

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

\Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Deformity (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\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.\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 of joint movement\Finding of range of joint movement\Limitation of joint movement (finding)\Contracture of joint\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\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\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Joint finding\Joint deformity\Multiple joint deformity\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)

\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of joint region\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of joint region\Arthropathy\Polyarthropathy\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\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.\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 (disorder)\Hereditary disorder of nervous system (disorder)\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disease 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\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\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.\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 (disorder)\Developmental hereditary disorder\Inherited arthrogryposis\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\Arthrogryposis\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.\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital deformity (disorder)\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, kongenitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Anterior horn cell disease (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Nervous system structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	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.	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4

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
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	Only initial character case insensitive (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	Only initial character 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	Only initial character 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
3417601001000117	Arthrogrypose-anteriore Hornzellkrankheit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6386511000241110	maladie de Vuopala	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6386521000241115	arthrogrypose létale concomitante d'un syndrome de la corne antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6386531000241118	syndrome d'arthrogrypose et maladie de la corne antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6386511000241110	maladie de Vuopala	fr	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6386521000241115	arthrogrypose létale concomitante d'un syndrome de la corne antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6386531000241118	syndrome d'arthrogrypose et maladie de la corne antérieure	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3417601001000117	Arthrogrypose-anteriore Hornzellkrankheit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module