733419006: Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Body measurement finding\Height / growth finding\General finding of height (finding)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear, nose and throat finding\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear, nose and throat finding\affection de l'oreille, du nez et de la gorge\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Ear finding (finding)\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Functional finding\Hearing finding\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder (disorder)\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\affection de l'oreille, du nez et de la gorge\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)

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
5403775014	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by 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
5403776010	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by 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
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
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
5403775014	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterized by 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
5403776010	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome is characterised by 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
3391991001000115	Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952961000172112	syndrome de dysostose métaphysaire-déficience intellectuelle-surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
952961000172112	syndrome de dysostose métaphysaire-déficience intellectuelle-surdité	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3391991001000115	Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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