733419006: syndrome de dysostose métaphysaire-déficience intellectuelle-surdité (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\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\Ear finding\affection de l'oreille\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation à propos de l'oreille et de l'audition\constatation sur l'audition\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \constatation fonctionnelle\constatation sur l'audition\Hearing disorder\...
• \Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \perte auditive (trouble)\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \perte auditive (trouble)\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Musculoskeletal finding\constatation à propos de l'os\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Musculoskeletal finding\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Genetic disease\maladie héréditaire\Hereditary disorder by system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Genetic disease\maladie héréditaire\Developmental hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Genetic disease\maladie héréditaire\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\Hereditary disorder by system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\affection du système auditif\Hearing disorder\perte auditive (trouble)\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\affection du système auditif\affection de l'oreille\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \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\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection d'un système corporel\maladie du système musculosquelettique (trouble)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Ear, nose and throat disorder\affection de l'oreille\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\affection de la tête\affection de l'oreille\Conductive hearing loss (disorder)\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble mental\troubles mentaux du développement\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\Congenital disease\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Neurodevelopmental disorder\troubles mentaux du développement\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Developmental hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
• \Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

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

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3499401012	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3499402017	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
763051000241113	syndrome de dysostose métaphysaire-déficience intellectuelle-surdité (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
952961000172112	syndrome de dysostose métaphysaire-déficience intellectuelle-surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3499990010	Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

This concept is not in any reference sets

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