773306002: Congenital lethal myopathy Compton North type (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type

\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\Congenital lethal myopathy Compton North type
\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\Congenital lethal myopathy Compton North type
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Finding of movement\Motor dysfunction\Akinesia\Congenital lethal myopathy Compton North type

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type

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

\Hereditary disorder of musculoskeletal system\Congenital lethal myopathy Compton North type

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type

\Neurological finding\Motor nervous system finding\Motor dysfunction\Akinesia\Congenital lethal myopathy Compton North type

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital lethal myopathy Compton North type
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Congenital lethal myopathy Compton North type
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Congenital lethal myopathy Compton North type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Congenital lethal myopathy Compton North type
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type
\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 lethal myopathy Compton North type
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type
\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\Congenital lethal myopathy Compton North type
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\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\Congenital lethal myopathy Compton North type
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Amyoplasia congenita disruptive sequence\Congenital lethal myopathy Compton North type
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Congenital lethal myopathy Compton North type
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Congenital lethal myopathy Compton North type

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3723063013 Congenital lethal myopathy Compton North type en Synonym Active Only initial character case insensitive SNOMED CT core module

3723064019 Congenital lethal myopathy Compton North type (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital lethal myopathy Compton North type	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Congenital lethal myopathy Compton North type	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	1
Congenital lethal myopathy Compton North type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Congenital lethal myopathy Compton North type	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Congenital lethal myopathy Compton North type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Congenital lethal myopathy Compton North type	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Existential restriction modifier
Congenital lethal myopathy Compton North type	Is a	Amyoplasia congenita disruptive sequence	true	Inferred relationship	Existential restriction modifier
Congenital lethal myopathy Compton North type	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Congenital lethal myopathy Compton North type	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Congenital lethal myopathy Compton North type	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Congenital lethal myopathy Compton North type	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Congenital lethal myopathy Compton North type	Finding site	Joint structure	false	Inferred relationship	Existential restriction modifier	1
Congenital lethal myopathy Compton North type	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	3
Congenital lethal myopathy Compton North type	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	3
Congenital lethal myopathy Compton North type	Is a	Akinesia	true	Inferred relationship	Existential restriction modifier
Congenital lethal myopathy Compton North type	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	1
Congenital lethal myopathy Compton North type	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier

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
3723063013	Congenital lethal myopathy Compton North type	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
3723064019	Congenital lethal myopathy Compton North type (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module