29145002: Schwartz-Jampel syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Combined disorder of muscle AND peripheral nerve\Schwartz-Jampel syndrome

\Myotonic disorder\Myotonia congenita\Schwartz-Jampel syndrome

\Muscle finding\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\...

\Combined disorder of muscle AND peripheral nerve\Schwartz-Jampel syndrome

\Myotonic disorder\Myotonia congenita\Schwartz-Jampel syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\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\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\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 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\Hereditary disorder of nervous system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the peripheral nervous system\Combined disorder of muscle AND peripheral nerve\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\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\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\Schwartz-Jampel syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Schwartz-Jampel syndrome
\Disease\Disorder of skeletal AND/OR smooth muscle\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Schwartz-Jampel syndrome
\Disease\Congenital disease\Myotonia congenita\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Combined disorder of muscle AND peripheral nerve\Schwartz-Jampel syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Myotonia congenita\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita group\Schwartz-Jampel syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

48771010 Schwartz-Jampel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

48772015 Myotonia chondrodystrophica en Synonym Active Entire term case insensitive SNOMED CT core module

48773013 Osteochondromuscular dystrophy en Synonym Active Entire term case insensitive SNOMED CT core module

760006014 Schwartz-Jampel syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1226300015 Chondrodystrophic myotonia en Synonym Active Entire term case insensitive SNOMED CT core module

3799826015 Burton syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3799827012 Catel Hempel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3799828019 Aberfeld syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3799829010 Burton skeletal dysplasia en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Schwartz-Jampel syndrome	Is a	Multisystem disorder S-T	false	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Is a	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Associated morphology	Dystrophy	false	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Associated morphology	Hypertrophy	false	Inferred relationship	Existential restriction modifier	2
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Finding site	Bone structure	true	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Schwartz-Jampel syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Schwartz-Jampel syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Is a	Myotonia congenita	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Is a	Combined disorder of muscle AND peripheral nerve	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Finding site	Skeletal muscle structure	true	Inferred relationship	Existential restriction modifier	2
Schwartz-Jampel syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Existential restriction modifier	1
Schwartz-Jampel syndrome	Finding site	Peripheral nervous system structure	true	Inferred relationship	Existential restriction modifier	3
Schwartz-Jampel syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Schwartz-Jampel syndrome	Is a	Spondyloepiphyseal dysplasia congenita group	true	Inferred relationship	Existential restriction modifier
Schwartz-Jampel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
48771010	Schwartz-Jampel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
48772015	Myotonia chondrodystrophica	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
48773013	Osteochondromuscular dystrophy	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
760006014	Schwartz-Jampel syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1226300015	Chondrodystrophic myotonia	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3799826015	Burton syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3799827012	Catel Hempel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3799828019	Aberfeld syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3799829010	Burton skeletal dysplasia	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module