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

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 skeletal AND/OR smooth 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\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\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 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 skeletal AND/OR smooth muscle (disorder)\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:

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

1193121000005119 Kombineret misdannelse i centralnervesystem og skeletmuskel da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

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	Kongenitte anomalier og udviklingsanomalier i nervesystemet	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	kongenit anomali	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	kongenit anomali	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	dysgenese	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	dysgenese	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	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	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
A rare congenital muscular dystrophy due to dystroglycanopathy with characteristics of proximal muscular weakness with a tendency for muscle hypertrophy and pseudohypertrophy, variable cognitive impairment, microcephaly, cerebellar hypoplasia with or without cysts and other structural brain anomalies.	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
A rare genetic congenital muscular alpha-dystroglycanopathy with brain and eye anomalies. The disorder has characteristics of a severe muscle-eye-brain disease-like phenotype associated with intellectual disability, muscular dystrophy, macrocephaly and extended bilateral multicystic white matter disease. There is evidence the disease is caused by homozygous mutation in the DAG1 gene on chromosome 3p21.	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
A rare genetic syndromic intellectual disability disorder with characteristics of congenital external nuclear ophthalmoplegia, lingua scrotalis, progressive chorioretinal sclerosis and intellectual disability. Bilateral ptosis, bilateral facial weakness, Parinaud syndrome, convergence paresis and myopia may be associated. There have been no further descriptions in the literature since 1975.	Is a	True	Combined malformation of central nervous system and skeletal muscle (disorder)	Inferred relationship	Some
Lethal hydranencephaly-diaphragmatic hernia syndrome is a rare, genetic, lethal, multiple congenital anomalies syndrome characterized by hydranencephaly and diaphragmatic hernia, as well as macrocephaly, a widely open anterior fontanel, scaphoid abdomen and hypotonia. Additionally, congenital heart defects, polyhydramnios and pulmonary hypertension have also been associated.	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
1193121000005119	Kombineret misdannelse i centralnervesystem og skeletmuskel	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)