ORPHA:98196
Malformation syndrome with hamartosis
Synonyms: Dysmorphologic diseases with phakomatosis
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Malformation syndrome with hamartosis | Dysmorphologic diseases with phakomatosis |
| fr | Syndrome malformatif associé à une hamartose | Syndrome dysmorphique avec phacomatose |
| de | Dysmorphie-Syndrom mit Hamartose | Dysmorphie-Syndrome mit Phakomatose |
| es | Síndrome malformativo con hamartosis | Enfermedades dismorfológicas con facomatosis |
| it | Sindrome dismorfica con amartosi | |
| nl | Malformatiesyndroom met hamartose | Dysmorfologische ziekte met facomatose |
| pt | Síndrome dismórfico com hamartose | |
| pl | Zespół malformacji z hamartozą | Choroba dysmorficzna z hamartozą |
| cs | Malformační hamartózní syndromy | Dysmorfologické nemoci s fakomatózou |
| uk | Синдром вади розвитку з гамартозом | Дисморфологічні захворювання з факоматозом |
| zh | 畸形综合征伴错构瘤病 | 伴斑痣性错构瘤病的畸形病 |
| tr | Hamartoz ile seyreden malformasyon sendromu | Fakomatozlu dismorfolojik hastalıklar |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5680230 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:93890Rare developmental defect during embryogenesis
rare developmental anomalies during embryogenesis - ORPHA:183530Rare genetic developmental defect during embryogenesis
rare genetic diseases
Children (20):
- ORPHA:64755Becker nevus syndrome
- ORPHA:90308Capillary-lymphatic-venous malformation with segmental distribution
- ORPHA:2092Focal dermal hypoplasia
- ORPHA:93921Full schwannomatosis
- ORPHA:377Gorlin syndrome
- ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:774Hereditary hemorrhagic telangiectasia
- ORPHA:1062Hereditary neurocutaneous malformation
- ORPHA:2612Linear nevus sebaceus syndrome
- ORPHA:163634Maffucci syndrome
- ORPHA:638Neurofibromatosis-Noonan syndrome
- ORPHA:500Noonan syndrome with multiple lentigines
- ORPHA:296Ollier disease
- ORPHA:306498PTEN hamartoma tumor syndrome
- ORPHA:2869Peutz-Jeghers syndrome
- ORPHA:2874Phakomatosis pigmentokeratotica
- ORPHA:2875Phakomatosis pigmentovascularis
- ORPHA:3205Sturge-Weber syndrome
- ORPHA:805Tuberous sclerosis complex
- ORPHA:892Von Hippel-Lindau disease
Codes that Orphanet moved or referred to this one:
- ORPHA:68388OBSOLETE: Neurofibromatosis referred to · inactive
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
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/98196
- This record as JSON: /data/d/98196.json