764812008: Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Finding of movement\Finding of joint movement\Finding of range of joint movement\Limitation of joint movement\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\...

\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Musculoskeletal finding\Disorder of musculoskeletal system\...

\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Genetic disease\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Degenerative disorder\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of skeletal AND/OR smooth muscle\Degenerative disorder of muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Developmental hereditary disorder\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with unusual brain and/or neuromuscular findings\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita
\Disease\Developmental disorder\Muscular dystrophy\Hereditary progressive muscular dystrophy\Congenital hereditary muscular dystrophy\Autosomal recessive myogenic arthrogryposis multiplex congenita

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2018. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3655188016 Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

3655189012 Autosomal recessive myogenic arthrogryposis multiplex congenita en Synonym Active Entire term case insensitive SNOMED CT core module

3655190015 SYNE1-related arthrogryposis multiplex congenita en Synonym Active Entire term case sensitive SNOMED CT core module

3655191016 SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	Amyoplasia congenita disruptive sequence	true	Inferred relationship	Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	Congenital muscular dystrophy	false	Inferred relationship	Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive myogenic arthrogryposis multiplex congenita	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive myogenic arthrogryposis multiplex congenita	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	4
Autosomal recessive myogenic arthrogryposis multiplex congenita	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive myogenic arthrogryposis multiplex congenita	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive myogenic arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive myogenic arthrogryposis multiplex congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive myogenic arthrogryposis multiplex congenita	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive myogenic arthrogryposis multiplex congenita	Finding site	Skeletal muscle structure	false	Inferred relationship	Existential restriction modifier	3
Autosomal recessive myogenic arthrogryposis multiplex congenita	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive myogenic arthrogryposis multiplex congenita	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Autosomal recessive myogenic arthrogryposis multiplex congenita	Associated morphology	Dystrophy	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive myogenic arthrogryposis multiplex congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Autosomal recessive myogenic arthrogryposis multiplex congenita	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive myogenic arthrogryposis multiplex congenita	Is a	Congenital hereditary muscular dystrophy	true	Inferred relationship	Existential restriction modifier
Autosomal recessive myogenic arthrogryposis multiplex congenita	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive myogenic arthrogryposis multiplex congenita	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Autosomal recessive myogenic arthrogryposis multiplex congenita	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
Autosomal recessive myogenic arthrogryposis multiplex congenita	Clinical course	Progressive	true	Inferred relationship	Existential restriction modifier	4

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
3655188016	Autosomal recessive myogenic arthrogryposis multiplex congenita (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3655189012	Autosomal recessive myogenic arthrogryposis multiplex congenita	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3655190015	SYNE1-related arthrogryposis multiplex congenita	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3655191016	SYNE1 (spectrin repeat containing nuclear envelope protein 1) related arthrogryposis multiplex congenita	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module