29145002: chondrodystrofische myotonie (aandoening)

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

\General finding of soft tissue\Disorder of soft tissue\Disorder of skeletal muscle\...

\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome

\Myotonic disorder\Myotonia congenita (disorder)\Schwartz-Jampel syndrome

\Muscle finding\Disorder of muscle\...

\Congenital myopathy (disorder)\Myotonia congenita (disorder)\Schwartz-Jampel syndrome

\Hereditary myopathy (disorder)\Schwartz-Jampel syndrome

\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Schwartz-Jampel syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary myopathy (disorder)\Schwartz-Jampel syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Schwartz-Jampel syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Schwartz-Jampel syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Schwartz-Jampel syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital myopathy (disorder)\Myotonia congenita (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the peripheral nervous system\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of muscle\Congenital myopathy (disorder)\Myotonia congenita (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of muscle\Hereditary myopathy (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Congenital combined disorder of muscle and peripheral nerve (disorder)\Schwartz-Jampel syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita (disorder)\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital dysplasia (disorder)\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group (disorder)\Schwartz-Jampel syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Schwartz-Jampel syndrome	Is a	Multisystem disorder S-T	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Finding site	Brain structure	false	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	Hypertrophy (morphologic abnormality)	false	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Finding site	Bone structure	true	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Schwartz-Jampel syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Myotonia congenita (disorder)	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Myoneural disorder	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Some	3
Schwartz-Jampel syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Schwartz-Jampel syndrome	Is a	Spondyloepiphyseal dysplasia congenita group (disorder)	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Hereditary myopathy (disorder)	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Congenital combined disorder of muscle and peripheral nerve (disorder)	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Congenital neurological disorder (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
48771010	Schwartz-Jampel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
48772015	Myotonia chondrodystrophica	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
48773013	Osteochondromuscular dystrophy	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
760006014	Schwartz-Jampel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1226300015	Chondrodystrophic myotonia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3799826015	Burton syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3799827012	Catel Hempel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3799828019	Aberfeld syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3799829010	Burton skeletal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1454071000146116	Schwartz-Jampel-syndroom	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2641251000146118	chondrodystrofische myotonie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
2641261000146115	chondrodystrofische myotonie (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)