ORPHA:253
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Synonyms: SED and SEMD
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- All ages
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia | SED and SEMD |
| fr | Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire | SED et SEMD |
| de | Spondyloepiphysäre und spondyloepimetaphysäre Dysplasie | SED und SEMD |
| es | Displasia espondiloepifisaria y displasia espondiloepimetafisaria | |
| it | Displasia spondiloepifisaria e displasia spondiloepimetafisaria | SED e SEMD |
| nl | Spondylo-epifysaire dysplasie en spondylo-epimetafysaire dysplasie | SED en SEMD |
| pt | Displasia espondilo-epifisária e displasia espondilo-epimetafisária | |
| pl | Dysplazja kręgosłupowo-nasadowa | = en |
| cs | Spondyloepifyzární a spondyloepimetafyzární dysplázie | SED a SEMD |
| uk | Спондилоепіфізарна дисплазія та спондилоепіметафізарна дисплазія | SED та SEMD |
| zh | 脊椎骨骺发育不良和脊椎骨骺发育不良 | SED与SEMD |
| tr | Spondiloepifizyal displazi ve spondiloepimetafizyal displazisi | SED ve SEMD |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q77.7 | E | specific | validated |
| ICD-11 | LD24.3 | E | specific | validated |
| UMLS | C5679593 | E | validated | |
| GARD | 7687 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:364526Primary bone dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
Children (61):
- ORPHA:93347Anauxetic dysplasia
- ORPHA:166100Autosomal dominant otospondylomegaepiphyseal dysplasia
- ORPHA:1427Autosomal recessive otospondylomegaepiphyseal dysplasia
- ORPHA:2619Brachydactylous dwarfism, Mseleni type
- ORPHA:1458CODAS syndrome
- ORPHA:436174Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
- ORPHA:420794Cono-spondylar dysplasia
- ORPHA:239Dyggve-Melchior-Clausen disease
- ORPHA:156731Dyssegmental dysplasia, Rolland-Desbuquois type
- ORPHA:1865Dyssegmental dysplasia, Silverman-Handmaker type
- ORPHA:496751EVEN-plus syndrome
- ORPHA:642085EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
- ORPHA:2114Hip dysplasia, Beukes type
- ORPHA:485Kniest dysplasia
- ORPHA:83629Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- ORPHA:664377MGP-related spondyloepiphyseal dysplasia
- ORPHA:560Marshall syndrome
- ORPHA:2635Metatropic dysplasia
- ORPHA:93279Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
- ORPHA:168454NANS-CDG
- ORPHA:1159Progressive pseudorheumatoid dysplasia
- ORPHA:457395Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
- ORPHA:3101Richieri Costa-da Silva syndrome
- ORPHA:353298Roifman syndrome
- ORPHA:157965SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
- ORPHA:93357SPONASTRIME dysplasia
- ORPHA:1830Schimke immuno-osseous dysplasia
- ORPHA:800Schwartz-Jampel syndrome
- ORPHA:178355Smith-McCort dysplasia
- ORPHA:228387Spondylo-megaepiphyseal-metaphyseal dysplasia
- ORPHA:93346Spondyloepimetaphyseal dysplasia congenita, Strudwick type
- ORPHA:642099Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
- ORPHA:93360Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
- ORPHA:99642Spondyloepimetaphyseal dysplasia, Handigodu type
- ORPHA:93351Spondyloepimetaphyseal dysplasia, Irapa type
- ORPHA:370015Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
- ORPHA:263482Spondyloepimetaphyseal dysplasia, Maroteaux type
- ORPHA:93356Spondyloepimetaphyseal dysplasia, Missouri type
- ORPHA:93282Spondyloepimetaphyseal dysplasia, PAPSS2 type
- ORPHA:93352Spondyloepimetaphyseal dysplasia, Shohat type
- ORPHA:171866Spondyloepimetaphyseal dysplasia, aggrecan type
- ORPHA:156728Spondyloepimetaphyseal dysplasia, matrilin-3 type
- ORPHA:168451Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
- ORPHA:168443Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
- ORPHA:93358Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
- ORPHA:94068Spondyloepiphyseal dysplasia congenita
- ORPHA:93284Spondyloepiphyseal dysplasia tarda
- ORPHA:163665Spondyloepiphyseal dysplasia tarda, Kohn type
- ORPHA:137678Spondyloepiphyseal dysplasia with metatarsal shortening
- ORPHA:93283Spondyloepiphyseal dysplasia, Kimberley type
- ORPHA:163668Spondyloepiphyseal dysplasia, MacDermot type
- ORPHA:163662Spondyloepiphyseal dysplasia, Reardon type
- ORPHA:459051Spondyloepiphyseal dysplasia, Stanescu type
- ORPHA:163654Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
- ORPHA:163649Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
- ORPHA:611207Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
- ORPHA:1856Spondyloperipheral dysplasia-short ulna syndrome
- ORPHA:828Stickler syndrome
- ORPHA:1667Wolcott-Rallison syndrome
- ORPHA:459070X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
- ORPHA:93349X-linked spondyloepimetaphyseal dysplasia
Codes that Orphanet moved or referred to this one:
- ORPHA:252OBSOLETE: Spondyloepimetaphyseal dysplasia referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/253
- This record as JSON: /data/d/253.json