ORPHA:858
Congenital toxoplasmosis
Synonyms: Mother-to-child transmission of toxoplasmosis · Toxoplasma embryofetopathy · Toxoplasma embryopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare fetopathy characterized by ocular, visceral or intracranial lesions secondary to maternal primary infection by <i>Toxoplasma gondii</i> (Tg).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital toxoplasmosis | Mother-to-child transmission of toxoplasmosis · Toxoplasma embryofetopathy · Toxoplasma embryopathy |
| fr | Toxoplasmose congénitale | Embryofoetopathie par infection au toxoplasme · Embryopathie par infection au toxoplasme |
| de | Toxoplasmose, kongenitale | Fetopathia toxoplasmotica · Toxoplasmose durch Mutter-Kind-Übertragung · Toxoplasmose-Embryopathie |
| es | Toxoplasmosis congénita | Embriofetopatía por toxoplasma · Embriopatía por toxoplasma · Transmisión materna de la toxoplasmosis |
| it | Toxoplasmosi congenita | Embriofetopatia da toxoplasma · Embriopatia da toxoplasma |
| nl | Congenitale toxoplasmose | Toxoplasma-embryofoetopathie · Toxoplasma-embryopathie · Transmissie van moeder op kind van toxoplasmose |
| pt | Toxoplasmose congénita | Embriopatia por Toxoplasma |
| pl | Toksoplazmoza wrodzona | Embriofetopatia toksoplazmatyczna · Embriopatia toksoplazmatyczna |
| cs | Vrozená toxoplazmóza | Toxoplazmová embryofetopatie · Toxoplazmová embryopatie |
| uk | Вроджений токсоплазмоз | Передача токсоплазмозу від матері до дитини · Токсоплазмова ембріофетопатія · Токсоплазмова ембріопатія |
| zh | 先天性弓形虫病 | 母婴传播型弓形虫病 |
| tr | Doğumsal toksoplazmoz | Toksoplazma embriyopatisi · Toksoplazma embriyofetopatisi · Toksoplazmozun anneden çocuğa geçişi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | P37.1 | E | specific | validated |
| ICD-11 | KA64.0 | E | specific | validated |
| MONDO | 0005715 | E | validated | |
| MeSH | D014125 | E | validated | |
| UMLS | C0040560 | E | validated | |
| MedDRA | 10010652 | 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 (3):
- ORPHA:166490Infectious disease with epilepsy
rare neurological diseases - ORPHA:232035Infectious embryofetopathy
rare developmental anomalies during embryogenesis; rare infectious diseases; rare teratologic disorders - ORPHA:163588Rare parasitic disease
rare infectious diseases
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
14 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 33 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-5 / 10 000 | 30 / 100 000 | France | Value and class | Validated | 20587361[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 1 / 100 000 | Greece | Value and class | Validated | 23173875[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 2.2 / 100 000 | United Kingdom | Value and class | Validated | 16547084[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 7.3 / 100 000 | Sweden | Value and class | Validated | 11561964[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 30 / 100 000 | Denmark | Value and class | Validated | 10359408[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 50 / 100 000 | Switzerland | Value and class | Validated | 7597405[PMID] |
| Prevalence at birth | >1 / 1000 | 130 / 100 000 | Germany | Value and class | Validated | 23173875[PMID] |
| Prevalence at birth | >1 / 1000 | 113 / 100 000 | Poland | Value and class | Validated | 11326012[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 40 / 100 000 | Brazil | Value and class | Validated | 22974376[PMID] |
| Prevalence at birth | >1 / 1000 | 138 / 100 000 | Italy | Value and class | Validated | 19430667[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 55 / 100 000 | United States | Value and class | Validated | Center for Diseases Control and Prevention[OTHER]_ORPHANET |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Prevalence at birth | >1 / 1000 | 640 / 100 000 | Iran, Islamic Republic of | Value and class | Validated | 31096746[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007703 | Abnormality of retinal pigmentation | |
| HP:0001622 | Premature birth | |
| Occasional (29-5%) | ||
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0001640 | Cardiomegaly | |
| HP:0002514 | Cerebral calcification | |
| HP:0100543 | Cognitive impairment | |
| HP:0002014 | Diarrhea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002240 | Hepatomegaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000952 | Jaundice | |
| HP:0002716 | Lymphadenopathy | |
| HP:0012733 | Macule | |
| HP:0000252 | Microcephaly | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0001873 | Thrombocytopenia | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
Run the differential on the 2 obligate / very frequent terms
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/858
- This record as JSON: /data/d/858.json