SCARF syndrome

Preferred Label : SCARF syndrome;

MeSH synonym : skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities;

Details

Origin ID

C536625;

UMLS CUI

C1839321;

Currated CISMeF NLP mapping
- SCARF syndrome [ICD-11 More detail]
- SCARF syndrome [ORDO Disease]
- Scarf syndrome [OMIM Phenotype]
- Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) [SNOMED CT concept]
Has phenotype(s) (HPO)
- Craniosynostosis, coronal and lambdoidal [HPO term]
- high, broad nasal root [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone and bones [MeSH Descriptor]
- craniofacial abnormalities [MeSH Descriptor]
- cutis laxa [MeSH Descriptor]
- genitalia [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
ORDO relation(s)
- SCARF syndrome [ORDO Disease]
Record concept(s)
- SCARF syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCARF syndrome [ORDO Disease]
- SCARF syndrome [ICD-11 More detail]
- Scarf syndrome [OMIM Phenotype]
- Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) [SNOMED CT concept]

Keyword's position in hierarchy(ies) :

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