278713008: Spondyloepiphyseal dysplasia congenita group (disorder)

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

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloepiphyseal dysplasia congenita
\Musculoskeletal finding\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloepiphyseal dysplasia congenita
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Congenital skeletal dysplasia (disorder)\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloepiphyseal dysplasia congenita
\Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia (disorder)\Spondyloepiphyseal dysplasia congenita
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Spondyloepiphyseal dysplasia congenita

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Spondyloepiphyseal dysplasia congenita	Is a	Congenital skeletal dysplasia (disorder)	true	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita	Finding site	Skeletal system structure	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Occurrence	Congenital	false	Inferred relationship	Some
Spondyloepiphyseal dysplasia congenita	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Finding site	Bone structure	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Finding site	Bone structure	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Occurrence	Congenital	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	Finding site	Bone structure	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia congenita	Occurrence	Congenital	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Spondyloepiphyseal dysplasia congenita	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hypochondrogenesis	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Achondrogenesis, type II	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with premature onset arthrosis (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia with joint laxity (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Mild spondyloepiphyseal dysplasia with early onset osteoarthritis due to collagen type II alpha 1 mutation (disorder)	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsia and brachyphalangia).	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia Nishimura type is characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is characterized by short stature and premature degenerative arthropathy.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
A rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
Schwartz-Jampel syndrome	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, growth retardation, hypotonia, cerebellar symptoms such as ataxia, spondyloepiphyseal dysplasia, and dysmorphic craniofacial features (including microcephaly, dolichocephaly, prominent ears, epicanthus, broad nasal bridge, long and flat philtrum, or small mouth). Additional reported manifestations are epilepsy, retinitis pigmentosa, and urogenital abnormalities, among others. Brain imaging may show cerebellar hypoplasia.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
A rare spondyloepiphyseal dysplasia characterized by progressive joint contractures with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Patients are of normal height and present with gait problems, joint pain, and enlarged joints with joint restriction and contractures. Radiological features include generalized platyspondyly, hypoplastic ilia, epiphyseal flattening with metaphyseal splaying of the tubular bones, and broad, elongated femoral necks with marked coxa valga. Histopathologic examination of cartilage shows PAS-positive cytoplasmic inclusion bodies in chondrocytes.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
A rare primary bone dysplasia characterised by severe spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability and Leber congenital amaurosis. Brain anomalies (including delayed myelinisation, white matter hyperintensity, hypomyelinating leucoencephalopathy, cerebral and cerebellar hypoplasia/atrophy), hypotonia, ataxia, dysmorphic facial features (including deep nasal bridge and large mouth) and irregular dentition were also reported.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some
A rare skeletal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, and midface hypoplasia with small nose. Mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone shaped phalangeal epiphyses are characteristic features. In adulthood, premature spondylosis and degenerative joint disease develop in some patients. Frequent respiratory infections with prolonged cough and inspiratory stridor, consistent with laryngomalacia, can also be present. Intelligence, dentition, hearing and visual acuity are not affected.	Is a	True	Spondyloepiphyseal dysplasia congenita	Inferred relationship	Some

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
415714019	Spondyloepiphyseal dysplasia congenita	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
415715018	SED - Spondyloepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
415716017	SEDC - Spondyloepiphyseal dysplasia congenita	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
415717014	Spondyloepiphyseal dysplasia	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
415718016	Spondyloepiphyseal dysplasia congenita group	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
671904019	Spondyloepiphyseal dysplasia congenita group (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5130421000241115	dysplasie spondyloépiphysaire congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3383571001000112	Dysplasie, spondyloepiphysäre, kongenitaler Typ	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module