719689005: dysplasie épiphysaire multiple type Beighton (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\Multiple epiphyseal dysplasia Beighton type (disorder)

\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\Finding of head region\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Head finding (finding)\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos d'une région de la tête et du cou\Ear, nose and throat finding\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)

\constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Decreased hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)

\constatation fonctionnelle\Decline in functional status (finding)\Decreased hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation fonctionnelle\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\constatation fonctionnelle\constatation sur l'audition\Decreased hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)

\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection de la tête\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection de la tête\affection de l'oreille\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection de la tête\affection de l'oreille\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Osteochondrodysplasia syndrome\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\maladie chronique\maladie chronique de l'oreille\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\maladie chronique\maladie chronique de l'appareil locomoteur\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\trouble du développement\Developmental hereditary disorder\dysplasie spondylo-épiphysaire tardive (trouble)\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of head\malformation congénitale de l'oreille\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (disorder)
\Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\dysplasie épiphysaire multiple\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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\Multiple epiphyseal dysplasia Beighton type (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

3317497018 Multiple epiphyseal dysplasia Beighton type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3317498011 Multiple epiphyseal dysplasia Beighton type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

3317499015 Multiple epiphyseal dysplasia with myopia and deafness syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

754791000241111 dysplasie épiphysaire multiple type Beighton (trouble) fr Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

885601000172114 dysplasie épiphysaire multiple type Beighton fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

997361000172118 syndrome de dysplasie épiphysaire multiple, myopie, surdité fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3317500012 A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple epiphyseal dysplasia Beighton type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Beighton type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Beighton type (disorder)	localisation d'une constatation (attribut)	Structure of epiphysis	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Beighton type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Beighton type (disorder)	morphologie associée (attribut)	dysplasie	true	Inferred relationship	Some	1
Multiple epiphyseal dysplasia Beighton type (disorder)	évolution clinique (attribut)	progressif	true	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Beighton type (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Beighton type (disorder)	a pour interprétation (attribut)	Decreased	true	Inferred relationship	Some	3
Multiple epiphyseal dysplasia Beighton type (disorder)	localisation d'une constatation (attribut)	oreille	true	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Beighton type (disorder)	est un(e) (attribut)	Auditory system hereditary disorder	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	est un(e) (attribut)	maladie chronique de l'oreille	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	interprète (attribut)	Hearing, function (observable entity)	true	Inferred relationship	Some	3
Multiple epiphyseal dysplasia Beighton type (disorder)	est un(e) (attribut)	Congenital conductive hearing loss	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Beighton type (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	4
Multiple epiphyseal dysplasia Beighton type (disorder)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	5
Multiple epiphyseal dysplasia Beighton type (disorder)	est un(e) (attribut)	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	est un(e) (attribut)	dysplasie épiphysaire multiple	true	Inferred relationship	Some
Multiple epiphyseal dysplasia Beighton type (disorder)	morphologie associée (attribut)	Congenital dysplasia	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Beighton type (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Multiple epiphyseal dysplasia Beighton type (disorder)	localisation d'une constatation (attribut)	Structure of epiphysis	false	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
3317497018	Multiple epiphyseal dysplasia Beighton type (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317498011	Multiple epiphyseal dysplasia Beighton type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3317499015	Multiple epiphyseal dysplasia with myopia and deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
754791000241111	dysplasie épiphysaire multiple type Beighton (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
885601000172114	dysplasie épiphysaire multiple type Beighton	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
997361000172118	syndrome de dysplasie épiphysaire multiple, myopie, surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3317500012	A skeletal dysplasia with characteristics of epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness and stubby digits. It has been described in one family in which the mother and three of her four children were affected. The condition is caused by a mutation in the COL2A1 gene (12q13.11-q13.2) and is transmitted in an autosomal dominant manner.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core