277949001: gecombineerde malformatie van centraal zenuwstelsel en skeletspier (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)

\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)

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

\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)

\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)
\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\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of muscle\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of muscle AND/OR tendon\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle (disorder)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	Congenital anomaly of muscle AND/OR tendon	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	Disorder of the central nervous system (disorder)	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	congenitale afwijking van zenuwstelsel (aandoening)	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Occurrence	Congenital	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	3
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	3
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	3
Combined malformation of central nervous system and skeletal muscle (disorder)	Finding site	Structure of central nervous system (body structure)	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Walker-Warburg congenital muscular dystrophy	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Muscle-eye-brain disease, congenital muscular dystrophy	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Muscle eye brain disease	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Congenital muscular dystrophy with cerebellar involvement	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder)	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
1187508013	Combined malformation of central nervous system and skeletal muscle (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208715016	Combined malformation of central nervous system and skeletal muscle	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
9101441000146117	gecombineerde malformatie van centraal zenuwstelsel en skeletspier	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9101451000146119	gecombineerde misvorming van CZS en skeletspier	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
9101461000146116	gecombineerde malformatie van centraal zenuwstelsel en skeletspier (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)