277949001: Combined malformation of central nervous system and skeletal muscle (disorder)

SNOMED CT Concept\Clinical 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

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

\Muscle finding\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle

\Musculoskeletal finding\Musculoskeletal disorder\...

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

\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

\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle
\Disease\Disorder of body system\Musculoskeletal 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
\Disease\Myopathy\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle
\Disease\Congenital disease\Congenital anomaly\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
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Congenital anomaly of skeletal muscle\Combined malformation of central nervous system and skeletal muscle
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Combined malformation of central nervous system and skeletal muscle
\Disease\Developmental disorder\Congenital anomaly\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

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1187508013 Combined malformation of central nervous system and skeletal muscle (disorder) en Fully specified name Active Case insensitive SNOMED CT core

1208715016 Combined malformation of central nervous system and skeletal muscle en Synonym Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Combined malformation of central nervous system and skeletal muscle	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle	Occurrence	Congenital	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Is a	Disorder of skeletal muscle	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle	Associated morphology	Congenital anomaly	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Finding site	Structure of central nervous system	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Occurrence	Congenital	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle	Finding site	Skeletal muscle structure	false	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle	Occurrence	Congenital	false	Inferred relationship	Some	3
Combined malformation of central nervous system and skeletal muscle	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	3
Combined malformation of central nervous system and skeletal muscle	Finding site	Structure of central nervous system	false	Inferred relationship	Some	3
Combined malformation of central nervous system and skeletal muscle	Finding site	Structure of central nervous system	true	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle	Finding site	Structure of central nervous system	false	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Occurrence	Congenital	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	1
Combined malformation of central nervous system and skeletal muscle	Is a	Congenital anomaly of muscle AND/OR tendon	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle	Is a	Congenital anomaly of skeletal muscle	true	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle	Is a	Disorder of the central nervous system	false	Inferred relationship	Some
Combined malformation of central nervous system and skeletal muscle	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Some

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
1187508013	Combined malformation of central nervous system and skeletal muscle (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
1208715016	Combined malformation of central nervous system and skeletal muscle	en	Synonym	Active	Case insensitive	SNOMED CT core