766820007: Spondyloepimetaphyseal dysplasia with multiple dislocations (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\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Finding of general physiological development\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Bone finding\Disorder of bone (disorder)\Bone injury\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \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\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of joint region\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of joint region\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of joint region\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of joint region\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Traumatic or non-traumatic injury (disorder)\Nontraumatic injury\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Traumatic or non-traumatic injury (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \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\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \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\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Bone injury\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Joint injury (disorder)\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Dislocation of joint\Pathological dislocation of joint\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Polyarthropathy\Pathological dislocation of multiple joints (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \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\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Bone injury\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy (disorder)\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Multiple dislocations with dysplasia (disorder)\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Skeletal dysplasia\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations
• \Disease\Developmental disorder (disorder)\Disorder of stature\Short stature disorder (disorder)\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Spondyloepimetaphyseal disorder\Spondyloepimetaphyseal dysplasia with multiple dislocations

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3662733015	Spondyloepimetaphyseal dysplasia with multiple dislocations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662734014	Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662735010	Spondyloepimetaphyseal dysplasia with joint laxity type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662736011	Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662737019	Spondyloepimetaphyseal dysplasia with joint laxity Hall type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662738012	Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
5404675014	Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404676010	Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterised by midface hypoplasia, short stature, generalised joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662733015	Spondyloepimetaphyseal dysplasia with multiple dislocations	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662734014	Spondyloepimetaphyseal dysplasia with multiple dislocations (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662735010	Spondyloepimetaphyseal dysplasia with joint laxity type 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662736011	Spondyloepimetaphyseal dysplasia with joint laxity leptodactylic type	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662737019	Spondyloepimetaphyseal dysplasia with joint laxity Hall type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662738012	Spondyloepimetaphyseal dysplasia with multiple dislocations Hall type	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3662739016	A rare genetic primary bone dysplasia disorder characterised by midface hypoplasia, short stature, generalised joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3662740019	A rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (for example kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404675014	Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404676010	Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterised by midface hypoplasia, short stature, generalised joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3418771001000117	Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000251000172115	dysplasie spondylo-épimétaphysaire avec dislocations multiples type Hall	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005201000172111	dysplasie spondylo-épimétaphysaire avec luxations multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1000251000172115	dysplasie spondylo-épimétaphysaire avec dislocations multiples type Hall	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
1005201000172111	dysplasie spondylo-épimétaphysaire avec luxations multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3418771001000117	Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen	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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