ORPHA:156237
Syndrome or malformation associated with head and neck malformations
- 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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome or malformation associated with head and neck malformations | |
| fr | Syndrome ou malformation associés à des malformations de la tête et du cou | |
| de | Syndrome und Fehlbildungen mit assoziierten Ohren-, Nasen- und Rachenfehlbildungen | |
| es | Síndromes y malformaciones asociados con oído, nariz y malformaciones de garganta | |
| it | Sindromi e malformazioni associate a malformazioni otorino-laringoiatriche | Sindromi e malformazioni associate a malformazioni ORL |
| nl | Syndroom of malformatie geassocieerd met hoofd- en halsmalformaties | |
| pt | Síndrome/malformação associada com malformação dos pavilhões auriculares, nariz e garganta | |
| pl | Zespół lub malformacja zwiazana z wadami głowy i szyi | |
| cs | Syndromy nebo malformace asociované s malformacemi hlavy a krku | |
| uk | Синдром або вада розвитку, повязана з вадами розвитку голови та шиї | |
| zh | 头颈部畸形相关综合征或畸形 | |
| tr | Baş ve boyun malformasyonları -ilişkili sendrom veya malformasyon |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 15501 | E | validated | |
| UMLS | C5680659 | 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 (3):
- ORPHA:155832Rare head and neck malformation
rare developmental anomalies during embryogenesis - ORPHA:68329Rare maxillo-facial surgical disease
rare surgical maxillo-facial diseases - ORPHA:98036Rare otorhinolaryngologic disease
rare otorhinolaryngological diseases
Children (33):
- ORPHA:2952Adducted thumbs-arthrogryposis syndrome, Christian type
- ORPHA:1071Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
- ORPHA:1150Arthrogryposis multiplex congenita-whistling face syndrome
- ORPHA:107BOR syndrome
- ORPHA:116Beckwith-Wiedemann syndrome
- ORPHA:1401CHAND syndrome
- ORPHA:138CHARGE syndrome
- ORPHA:1393Cerebrocostomandibular syndrome
- ORPHA:1896EEC syndrome
- ORPHA:276280Hemihyperplasia-multiple lipomatosis syndrome
- ORPHA:694956Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
- ORPHA:718Isolated Pierre Robin sequence
- ORPHA:91397Isolated ankyloblepharon filiforme adnatum
- ORPHA:141214Isolated congenital syngnathia
- ORPHA:458833Isolated lymphatic malformation
- ORPHA:2461Marden-Walker syndrome
- ORPHA:1248Maxillonasal dysplasia
- ORPHA:1600Monosomy 18q syndrome
- ORPHA:2215Multiple pterygium-malignant hyperthermia syndrome
- ORPHA:139039Orofacial clefting syndrome
- ORPHA:140997Orofaciodigital syndrome
- ORPHA:90650Otopalatodigital syndrome type 1
- ORPHA:90652Otopalatodigital syndrome type 2
- ORPHA:294963Popliteal pterygium syndrome
- ORPHA:246Postaxial acrofacial dysostosis
- ORPHA:1214Progressive hemifacial atrophy
- ORPHA:744Proteus syndrome
- ORPHA:138044Rare disease with Pierre Robin syndrome
- ORPHA:576278SATB2-associated syndrome
- ORPHA:373Simpson-Golabi-Behmel syndrome
- ORPHA:3205Sturge-Weber syndrome
- ORPHA:2460Van den Ende-Gupta syndrome
- ORPHA:888Van der Woude syndrome
Codes that Orphanet moved or referred to this one:
- ORPHA:91353OBSOLETE: Choristoma 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/156237
- This record as JSON: /data/d/156237.json