nablus mask-like facial syndrome

Preferred Label : nablus mask-like facial syndrome;

MeSH note : Upswept frontal hairline, tight glistening facial skin, high-arched and sparse eyebrows, absent/scant eyelashes, hypertelorism, blepharophimosis;

Details

Origin ID

C536110;

UMLS CUI

C1842464;

CISMeF manual mappings
- 8q22.1 microdeletion syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- 8q22.1 deletion [ICD-11 More detail]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- Nablus mask-like facial syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- blepharophimosis [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
Record concept(s)
- Nablus mask-like facial syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 8q22.1 deletion [ICD-11 More detail]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome (disorder) [SNOMED CT concept]
- Nablus mask-like facial syndrome [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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