ORPHA:93976
Anotia
- Type
- Morphological anomaly
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A congenital malformation of the external ear and the most extreme form of microtia characterized by the complete absence of the external ear and auditory canal, conductive hearing loss, attention deficit disorders and delayed language development.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Anotia | |
| fr | Anotie | |
| de | Anotie | |
| es | Anotia | |
| it | Anotia | |
| nl | Anotie | |
| pt | Anotia | |
| pl | Brak uszu | |
| cs | Anotie | |
| uk | Анотія | |
| zh | 无耳畸形 | |
| tr | Anosya |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600674 | NTBT | validated | |
| ICD-10 | Q16.0 | BTNT | specific | validated |
| ICD-10 | Q16.1 | BTNT | specific | validated |
| ICD-11 | LA22.1 | E | specific | validated |
| MONDO | 0019780 | E | validated | |
| UMLS | C0702139 | E | validated | |
| MedDRA | 10002654 | 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:156243Pinnae and external auditory canal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
15 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | France | Class only | Validated | 8933331[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.03 / 100 000 | Italy | Value and class | Validated | 7666397[PMID] |
| Point prevalence | <1 / 1 000 000 | 0.03 / 100 000 | Specific population | Value and class | Validated | 16359491[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.028 / 100 000 | Europe | Value and class | Not yet validated | ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | <1 / 1 000 000 | 0.04 / 100 000 | France | Value and class | Validated | 8933331[PMID] |
| Point prevalence | <1 / 1 000 000 | — | United States | Class only | Validated | 8933331[PMID]_19760683[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Finland | Value and class | Validated | 17548114[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Finland | Class only | Validated | 17548114[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.05 / 100 000 | Chile | Value and class | Validated | 17186100[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Chile | Class only | Not yet validated | 17186100[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Italy | Class only | Not yet validated | 7666397[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | Sweden | Value and class | Validated | 8933331[PMID] |
| Point prevalence | <1 / 1 000 000 | — | Sweden | Class only | Validated | 8933331[PMID] |
| Prevalence at birth | <1 / 1 000 000 | 0.02 / 100 000 | United States | Value and class | Validated | 8933331[PMID]_19760683[PMID] |
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/93976
- This record as JSON: /data/d/93976.json