254098000: Multiple dislocations with dysplasia (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia
\Musculoskeletal finding\Joint finding\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia

\Disease\Disorder of joint region\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder of joint region\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder of joint region\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia
\Disease\Disorder of joint region\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder resulting from physical damage to the body\Nontraumatic injury (disorder)\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder resulting from physical damage to the body\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Injury of musculoskeletal system\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Joint injury\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Dislocation of joint\Dislocation of joint caused by presence of another disease\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Chronic arthropathy\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy (disorder)\Polyarthropathy\Pathological dislocation of multiple joints\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia
\Disease\Chronic disease\Chronic disease of musculoskeletal system\Chronic arthropathy\Multiple dislocations with dysplasia
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Multiple dislocations with dysplasia

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

378257014 Multiple dislocations with dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

644943011 Multiple dislocations with dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5081801000241117 luxations multiples avec dysplasie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple dislocations with dysplasia	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Multiple dislocations with dysplasia	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Finding site	Skeletal system structure	true	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Occurrence	Congenital	false	Inferred relationship	Some
Multiple dislocations with dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Occurrence	Congenital	false	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Finding site	Bone structure	false	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple dislocations with dysplasia	Is a	Dislocation of joint	false	Inferred relationship	Some
Multiple dislocations with dysplasia	Is a	Polyarthropathy	false	Inferred relationship	Some
Multiple dislocations with dysplasia	Finding site	Joint structure of multiple body sites (body structure)	true	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Associated morphology	Dislocation	true	Inferred relationship	Some	2
Multiple dislocations with dysplasia	Is a	Chronic arthropathy	true	Inferred relationship	Some
Multiple dislocations with dysplasia	Clinical course	Progressive	true	Inferred relationship	Some	3
Multiple dislocations with dysplasia	Is a	Pathological dislocation of multiple joints	true	Inferred relationship	Some
Multiple dislocations with dysplasia	Due to	Spontaneous event (event)	true	Inferred relationship	Some	4
Multiple dislocations with dysplasia	Associated morphology	Damage	false	Inferred relationship	Some	5

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Desbuquois syndrome	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire	Is a	False	Multiple dislocations with dysplasia	Inferred relationship	Some
Larsen syndrome	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
Spondyloepiphyseal dysplasia with congenital joint dislocations (disorder)	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
A rare developmental defect with connective tissue involvement characterized by multiple joint dislocations, flattened facial appearance, abnormal palmar creases, laryngotracheomalacia, and pulmonary hypoplasia. Additional signs may include a bifid tongue, micrognathia, non-immune hydrops fetalis, and brain dysplasia. The disease is lethal shortly after birth due to respiratory insufficiency.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
Atelosteogenesis (disorder)	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
A rare primary bone defect, described only in a mother and her three daughters to date, characterized by short stature, hip dislocation, minor vertebral and pelvic changes, and microtia with hearing loss. There have been no further descriptions in the literature since 1981.	Is a	False	Multiple dislocations with dysplasia	Inferred relationship	Some
Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
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.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
A rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
Reunion Island Larsen-like syndrome	Is a	False	Multiple dislocations with dysplasia	Inferred relationship	Some
Boomerang dysplasia	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
Pseudodiastrophic dysplasia	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some
A rare developmental defect with connective tissue involvement characterized by joint hyperextensibility and multiple dislocations of large joints, severe myopia, and short stature. Other common features include retinal detachment, iris and chorioretinal coloboma, kyphoscoliosis and other spine deformities, pectus carinatum, talipes equinovarus, and progressive hearing loss.	Is a	True	Multiple dislocations with dysplasia	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
378257014	Multiple dislocations with dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
644943011	Multiple dislocations with dysplasia (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5081801000241117	luxations multiples avec dysplasie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module