1251451005: Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Deformity\Deformity of limb\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Deformity\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Deformity\Congenital deformity\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Deformity\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

\Finding of limb structure\Deformity of limb\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Finding of limb structure\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Finding of limb structure\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

\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\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Finding of movement\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

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

\Hereditary disorder of musculoskeletal system\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

\Congenital anomaly of musculoskeletal system\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

\Disease\Disorder of joint region\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital deformity\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Movement disorder\Contracture of joint\Contracture of multiple joints\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Arthrogryposis\Inherited arthrogryposis\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital deformity\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Congenital abnormal shape of digit\Camptodactyly\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5133543012 Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

5133544018 Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module

5133545017 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Is a	Inherited arthrogryposis	true	Inferred relationship	Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Is a	Camptodactyly	true	Inferred relationship	Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Interprets	Range of joint movement	true	Inferred relationship	Existential restriction modifier	4
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Has interpretation	Decreased	true	Inferred relationship	Existential restriction modifier	4
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	1
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Finding site	Structure of joint region	true	Inferred relationship	Existential restriction modifier	2
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Associated morphology	Contracture	true	Inferred relationship	Existential restriction modifier	2
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Finding site	Musculoskeletal system structure of digit	true	Inferred relationship	Existential restriction modifier	3
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Associated morphology	Fixed flexion deformity	true	Inferred relationship	Existential restriction modifier	3
Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3

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
5133543012	Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive	SNOMED CT core module
5133544018	Myosin binding protein C1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
5133545017	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module