29145002: Schwartz-Jampel syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation générale à propos des tissus mous\Disorder of soft tissue\affection d'un muscle squelettique\...

\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)

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

\constatation à propos d'un muscle\affection musculaire\affection d'un muscle squelettique\...

\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)

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

\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of nervous system\syndrome de Schwartz-Jampel (trouble)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\syndrome de Schwartz-Jampel (trouble)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\syndrome de Schwartz-Jampel (trouble)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of nervous system\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\Disorder of nervous system (disorder)\affection du système nerveux périphérique\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\affection musculaire\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)
\Disease\affection musculaire\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\syndrome de Schwartz-Jampel (trouble)
\Disease\Congenital disease\Myotonia congenita (disorder)\syndrome de Schwartz-Jampel (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de Schwartz-Jampel (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\affection des muscles et des nerfs périphériques combinée (trouble)\syndrome de Schwartz-Jampel (trouble)
\Disease\Disorder of soft tissue\affection d'un muscle squelettique\Myotonic disorder\Myotonia congenita (disorder)\syndrome de Schwartz-Jampel (trouble)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\trouble du développement\Developmental hereditary disorder\syndrome de Schwartz-Jampel (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\syndrome de Schwartz-Jampel (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita\syndrome de Schwartz-Jampel (trouble)

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
syndrome de Schwartz-Jampel (trouble)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	localisation d'une constatation (attribut)	structure osseuse	true	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
syndrome de Schwartz-Jampel (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Myotonia congenita (disorder)	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Hereditary disorder of nervous system	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	affection des muscles et des nerfs périphériques combinée (trouble)	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	localisation d'une constatation (attribut)	structure de muscle squelettique	true	Inferred relationship	Some	2
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	localisation d'une constatation (attribut)	structure du système nerveux périphérique	true	Inferred relationship	Some	3
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	2
syndrome de Schwartz-Jampel (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	3
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Spondyloepiphyseal dysplasia congenita	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Developmental hereditary disorder	true	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Multisystem disorder S-T (navigational concept)	false	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	est un(e) (attribut)	Multiple malformation syndrome with unusual brain and/or neuromuscular findings	false	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	morphologie associée (attribut)	hypertrophie	false	Inferred relationship	Some	2
syndrome de Schwartz-Jampel (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	1
syndrome de Schwartz-Jampel (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
syndrome de Schwartz-Jampel (trouble)	morphologie associée (attribut)	Dystrophy (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
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
413821000241116	syndrome de Schwartz-Jampel (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
898491000172112	syndrome de Schwartz-Jampel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
920691000172111	dysplasie squelettique de Burton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)