ORPHA:93457
Non-syndromic limb reduction defect
Synonyms: Non-syndromic limb hypoplasia
- Type
- Category
- Group
- Group of disorders
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Non-syndromic limb reduction defect | Non-syndromic limb hypoplasia |
| fr | Anomalie réductionnelle des membres non syndromique | |
| de | Gliedmaßen-Reduktionsdefekt, nicht-syndromaler | Extremitätenhypoplasie, nicht-syndromale |
| es | Defecto no sindrómico de reducción de las extremidades | Hipoplasia no sindrómica de las extremidades |
| it | Difetto non sindromico da riduzione degli arti | Ipoplasia non sindromica degli arti |
| nl | Niet-syndromaal reductiedefect van ledemaat | Niet-syndromale hypoplasie van ledemaat |
| pt | Hipoplasia dos membros - defeito de redução dos membros | |
| pl | Niesyndromiczne skrócenie kończyn | Niesyndromiczna hipoplazja kończyn |
| cs | Nesyndromické redukční vady končetin | Nesyndromická hypoplázie končetin |
| uk | Несиндромальний дефект редукції кінцівок | Несиндромна гіпоплазія кінцівок |
| zh | 非综合征型肢体短缩畸形 | 非综合征性肢体发育不全 |
| tr | Sendromik olmayan ekstremite redüksiyon defekti | Sendromik olmayan ekstremite hipoplazisi |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LB99 | BTNT | specific | validated |
| ICD-11 | LB9A | BTNT | specific | validated |
| ICD-11 | LB9B | BTNT | specific | validated |
| MONDO | 0019713 | E | validated | |
| UMLS | C5680277 | 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 (3):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:109011Non-syndromic limb malformation
rare developmental anomalies during embryogenesis; rare genetic diseases
Codes that Orphanet moved or referred to this one:
- ORPHA:294929OBSOLETE: Terminal limb defects referred to · inactive
- ORPHA:294931OBSOLETE: Adactyly of hand referred to · inactive
- ORPHA:435623OBSOLETE: Adactyly of foot referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/93457
- This record as JSON: /data/d/93457.json