Multifocal infantile hemangioma with extracutenous involvement
Synonyms: Diffuse neonatal hemangiomatosis · Multifocal infantile haemangioma with extracutenous involvement
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
Diffuse neonatal hemangiomatosis is a rare vascular tumor from unknown origin characterized by multiple, progressive, rapidly growing cutaneous hemangiomas (e.g. in the scalp, face, trunk and extremities) associated with widespread visceral hemangiomas in the liver, lungs, gastrointestinal tract, brain, and meninges.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multifocal infantile hemangioma with extracutenous involvement | Diffuse neonatal hemangiomatosis · Multifocal infantile haemangioma with extracutenous involvement |
| fr | Hémangiome multifocal infantile avec atteinte extracutanée | Angiomatose miliaire · Hémangiomatose disséminée · Hémangiomatose néonatale diffuse |
| de | Multifokales infantiles Hämangiom mit extrakutaner Beteiligung | Hämangiomatose, diffuse neonatale |
| es | Hemangioma infantil multifocal con afectación extracutánea | Hemangiomatosis neonatal difusa |
| it | Emangioma infantile multifocale con coinvolgimento extracutaneo | Emangiomatosi neonatale diffusa |
| nl | Multifocaal infantiel hemangioom met extracutane betrokkenheid | Diffuse neonatale hemangiomatose |
| pt | Hemangiomatose difusa neonatal | |
| pl | Rozlana niemowlęca hemangiomatoza | = en |
| cs | Difuzní neonatální hemangiomatóza | = en |
| uk | Мультифокальна дитяча гемангіома з екстракутанним ураженням | Дифузний неонатальний гемангіоматоз |
| zh | 弥漫性新生儿血管瘤病 | |
| tr | Yaygın yenidoğan hemanjiyomatoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.8 | NTBT | index | validated |
| ICD-11 | 2E81.2Y | NTBT | index | validated |
| MONDO | 0016237 | E | validated | |
| UMLS | C0474965 | E | validated | |
| GARD | 1861 | 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:210589Rare infantile hemangioma
rare developmental anomalies during embryogenesis; rare circulatory system diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000929 | Abnormal skull morphology | |
| HP:0001928 | Abnormality of coagulation | |
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0000142 | Abnormality of the vagina | |
| HP:0001608 | Abnormality of the voice | |
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0007461 | Hemangiomatosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001789 | Hydrops fetalis | |
| HP:0003072 | Hypercalcemia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001561 | Polyhydramnios | |
| HP:0001622 | Premature birth | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0000083 | Renal insufficiency | |
| HP:0001873 | Thrombocytopenia | |
| HP:0100761 | Visceral angiomatosis | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2123
- This record as JSON: /data/d/2123.json