715565004: syndroom van letale artrogrypose gelijktijdig met voorhoornaandoening (aandoening)

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 foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Arthrogryposis multiplex congenita\Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\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\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	amyoplasia congenita (aandoening)	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	gebrekkige ontwikkeling (afwijkende morfologie)	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
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Is a	Congenital neurological disorder (disorder)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

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
6666811000146118	Vuopala-ziekte	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6666831000146113	ziekte van Vuopala	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6666841000146117	LAAHD	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8454321000146112	syndroom van letale artrogrypose gelijktijdig met voorhoornaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8454331000146114	syndroom van letale artrogrypose gelijktijdig met voorhoornaandoening (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
8454341000146118	syndroom van letale arthrogryposis gelijktijdig met voorhoornaandoening	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)