8q22.1 deletion

Preferred Label : 8q22.1 deletion;

ICD-11 definition : 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome is a rare microdeletion syndrome associated with a distinct facial appearance with blepharophimosis, tight appearing glistening facial skin, flat and broad nose, dysplastic ears and unusual scalp hair pattern.;

ICD-11 synonym : 8q22.1 deletion sydnrome; Trisomy 8q22.1; Nablus mask-like facial syndrome;

Details

Origin ID

115857702;

UMLS CUI

C1842464;

Currated CISMeF NLP mapping
- 8q22.1 microdeletion syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- Nablus mask-like facial syndrome [MeSH concept]
- Nablus mask-like facial syndrome [OMIM Phenotype]
- nablus mask-like facial syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 8q22.1 microdeletion syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- Nablus mask-like facial syndrome [OMIM Phenotype]
- Nablus mask-like facial syndrome [MeSH concept]
- nablus mask-like facial syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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