720863002: syndrome d'Eiken (trouble)

• SNOMED CT Concept\constatation clinique\...
• \constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \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\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Eiken syndrome (disorder)
• \Disease\affection dégénérative\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\affection dégénérative du système musculosquelettique\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \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\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \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\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Eiken syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3322339011	Eiken syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3322340013	Eiken syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
756651000241119	syndrome d'Eiken (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
929001000172115	syndrome d'Eiken	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3322341012	A rare familial skeletal dysplasia with characteristics of multiple epiphyseal dysplasia with extremely retarded ossification. It has been described in 6 members of a unique consanguineous family. A mutation in PTHR1 gene is responsible for this syndrome. Transmission is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

GB English

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