ORPHA:633228
Isolated proximal femoral focal deficiency
Synonyms: CPFD · Isolated congenital proximal femoral deficiency · PFFD
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated proximal femoral focal deficiency | CPFD · Isolated congenital proximal femoral deficiency · PFFD |
| fr | Déficience fémorale focale proximale isolée | Déficience fémorale congénitale isolée |
| de | Isolierter proximaler fokaler Femurdefekt | PFFD · CPFD · Isolierter angeborener proximaler Oberschenkeldefekt |
| es | Deficiencia femoral focal proximal aislada | CPFD · Deficiencia femoral proximal congénita aislada · PFFD |
| it | Deficit focale della porzione prossimale del femore | CPFD · Deficit congenito della porzione prossimale del femore · PFFD |
| nl | Geïsoleerde proximale femorale focale deficiëntie | CPFD · Geïsoleerde congenitale proximale femorale deficiëntie · PFFD |
| pt | Deficiência femoral proximal focal isolada | CPFD · Deficiência femoral proximal isolada congénita · PFFD |
| pl | Izolowane ogniskowe skrócenie bliższego odcinka kości udowej | = en |
| cs | Proximální fokální femorální deficience | = en |
| uk | Ізольований фокальний дефект проксимального відділу стегнової кістки | CPFD · Ізольований вроджений дефект проксимального відділу стегнової кістки · PFFD |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q74.8 | NTBT | attributed | validated |
| MONDO | 0859006 | E | validated | |
| UMLS | C0431996 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:294927Non-syndromic intercalary limb defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.55 / 100 000 | Worldwide | Value and class | Validated | 32019581[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 1.55 / 100 000 | Worldwide | Value and class | Validated | 32019581[PMID]_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
7 annotations · validated 2024-10-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009108 | Aplasia/Hypoplasia involving the femoral head and neck | |
| HP:0005613 | Aplasia/hypoplasia of the femur | |
| HP:0100559 | Lower limb asymmetry | |
| HP:0011428 | Short fetal femur length | |
| Frequent (79-30%) | ||
| HP:0010501 | Limitation of knee mobility | |
| HP:0008800 | Limited hip movement | |
| Excluded (0%) | ||
| HP:0009800 | Maternal diabetes | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 39070373[PMID]_23984135[PMID]_23915863[PMID]_30787784[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/633228
- This record as JSON: /data/d/633228.json