715674008: Multiple epiphyseal dysplasia type 5 (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \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\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (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\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (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\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (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 type 5 (disorder)
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (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 type 5 (disorder)
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (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\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (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\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of epiphysis\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Osteochondrodysplasia syndrome\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Epiphyseal dysplasia (disorder)\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)
• \Disease\Developmental disorder (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 type 5 (disorder)
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepiphyseal dysplasia tarda\Multiple epiphyseal dysplasia\Multiple epiphyseal dysplasia type 5 (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3303380016	Multiple epiphyseal dysplasia type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303381017	Multiple epiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303382012	Polyepiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5401037014	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401038016	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterised by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3303380016	Multiple epiphyseal dysplasia type 5 (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303380016	Multiple epiphyseal dysplasia type 5 (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303381017	Multiple epiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303381017	Multiple epiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303382012	Polyepiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3303382012	Polyepiphyseal dysplasia type 5	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3303383019	A type of multiple epiphyseal dysplasia manifesting with early onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Specific features include normal stature and lesser incidence of gait abnormalities. Follows an autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401037014	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterized by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5401038016	Multiple epiphyseal dysplasia type 5 is a multiple epiphyseal dysplasia characterised by an early-onset of pain and stiffness (involving knee and hip), progressive deformity of the extremities and precocious osteoarthritis associated with delayed and irregular ossification of epiphyses. Features specific to multiple epiphyseal dysplasia, type 5 include normal stature and lesser incidence of gait abnormalities. Radiographs reveal epiphyseal and metaphyseal irregularities. Multiple epiphyseal dysplasia type 5 follows an autosomal dominant mode of transmission.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3423541001000116	Dysplasie, epiphysäre multiple, Typ 5	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908621000172119	dysplasie polyépiphysaire type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974221000172119	dysplasie épiphysaire multiple type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
908621000172119	dysplasie polyépiphysaire type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
974221000172119	dysplasie épiphysaire multiple type 5	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3423541001000116	Dysplasie, epiphysäre multiple, Typ 5	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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