29145002: Schwartz-Jampel syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

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

\Myoneural disorder\Schwartz-Jampel syndrome

\Myotonic disorder\Congenital myotonia\Schwartz-Jampel syndrome

\Muscle finding\Myopathy\Disorder of skeletal muscle\...

\Myoneural disorder\Schwartz-Jampel syndrome

\Myotonic disorder\Congenital myotonia\Schwartz-Jampel syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\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\Neurological disorder\Hereditary disorder of nervous system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the peripheral nervous system\Myoneural disorder\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myoneural disorder\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Myoneural disorder\Schwartz-Jampel syndrome
\Disease\Myopathy\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital myotonia\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myoneural disorder\Schwartz-Jampel syndrome
\Disease\Disorder of soft tissue\Disorder of skeletal muscle\Myotonic disorder\Congenital myotonia\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\Schwartz-Jampel syndrome

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

1226300015 Chondrodystrophic myotonia en Synonym Active Case insensitive SNOMED CT core
3799826015 Burton syndrome en Synonym Active Case sensitive SNOMED CT core
3799827012 Catel Hempel syndrome en Synonym Active Case sensitive SNOMED CT core
3799828019 Aberfeld syndrome en Synonym Active Case sensitive SNOMED CT core
3799829010 Burton skeletal dysplasia en Synonym Active Case sensitive SNOMED CT core
48771010 Schwartz-Jampel syndrome en Synonym Active Case sensitive SNOMED CT core
48772015 Myotonia chondrodystrophica en Synonym Active Case insensitive SNOMED CT core
48773013 Osteochondromuscular dystrophy en Synonym Active Case insensitive SNOMED CT core
760006014 Schwartz-Jampel syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Schwartz-Jampel syndrome	Associated morphology	Morphologically abnormal structure	false	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Pathological process	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	Pathological developmental process	true	Inferred relationship	Some	3
Schwartz-Jampel syndrome	Pathological process	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	Congenital myotonia	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	true	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	true	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
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	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Schwartz-Jampel syndrome	Associated morphology	Hypertrophy	false	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Schwartz-Jampel syndrome	Associated morphology	Developmental abnormality	false	Inferred relationship	Some	1
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

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

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