719689005: Multiple epiphyseal dysplasia Beighton type (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Head finding (finding)\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Head finding (finding)\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear, nose and throat finding (finding)\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear, nose and throat finding (finding)\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Ear finding\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Ear and auditory finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Functional finding\Decline in functional status (finding)\Decreased hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Functional finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Functional finding\Hearing finding\Decreased hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis (disorder)\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis (disorder)\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of sensory organ (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis (disorder)\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Disorder of head (disorder)\Disorder of ear\Conductive hearing loss\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Chronic disease\Chronic disease of ear\Chronic deafness\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital malformation of ear\Congenital anomaly of ear with impairment of hearing\Congenital conductive hearing loss\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia Beighton type (disorder)
• \Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\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
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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
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

Expanded Value Set

This concept is not in any reference sets

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