Isolated hypoplasia of thumb
Synonyms: Isolated congenital absence/hypoplasia of thumb · Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly
- Type
- Morphological anomaly
- Group
- Disorder
- Status
- active
A rare congenital malformation characterized by underdevelopment of the thumb, ranging from a slight decrease in thumb size to complete absence of the thumb. The malformation may occur isolated, combined to other defects of the hand or upper limb, or as part of a multiple congenital anomaly syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated hypoplasia of thumb | Isolated congenital absence/hypoplasia of thumb · Isolated congenital thumb hypodactyly · Isolated congenital thumb oligodactyly |
| fr | Hypoplasie isolée du pouce | Absence/hypoplasie congénitale isolée du pouce · Hypodactylie du pouce isolée · Oligodactylie du pouce isolée |
| de | Daumenhypoplasie, isolierte | Isolierte kongenitale Daumenhypodaktylie · Isolierte kongenitale Oligodaktylie des Daumens · Isoliertes angeborenes Fehlen des Daumens |
| es | Hipoplasia aislada del pulgar | Ausencia/hipoplasia congénita aislada del pulgar · Hipodactilia congénita aislada del pulgar · Oligodactilia congénita aislada del pulgar |
| it | Ipoplasia isolata del pollice | Aplasia/ipoplasia congenita isolata del pollice · Ipodattilia congenita isolata del pollice · Oligodattilia congenita isolata del pollice |
| nl | Geïsoleerde hypoplasie van duim | Geïsoleerde congenitale afwezigheid/hypoplasie van duim · Geïsoleerde congenitale hypodactylie van duim · Geïsoleerde congenitale oligodactylie van duim |
| pt | Hipoplasia do polegar isolada | Ausência/hipoplasia do polegar isolada congénita · Hipodactilia do polegar isolada congénita · Oligodactilia do polegar isolada congénita |
| pl | Izolowany niedorozwój kciuka | Hipodaktylia kciuka · Oligodaktylia kciuka |
| cs | Vrozená absence/hypoplázie palce ruky | Hypodaktylie palce ruky · Oligodaktylie palce ruky |
| uk | Ізольована гіпоплазія великого пальця | Ізольована вроджена відсутність/гіпоплазія великого пальця · Ізольована вроджена гіподактилія великого пальця · Ізольована вроджена олігодактилія великого пальця |
| zh | 先天性拇指发育不全 | 先天性拇指缺如/发育不全 |
| tr | Doğumsal başparmak hipoplazisi | Başparmak hipodaktilisi · Başparmak oligodaktilisi · Doğumsal yokluk / baş parmak hipoplazisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q71.3 | NTBT | attributed | validated |
| ICD-11 | LB99.7 | NTBT | index | validated |
| UMLS | C5925024 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:498457Non-syndromic longitudinal limb defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295110OBSOLETE: Congenital absence/hypoplasia of thumb, unilateral referred to · inactive
- ORPHA:295112OBSOLETE: Congenital absence/hypoplasia of thumb, bilateral referred to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/294988
- This record as JSON: /data/d/294988.json