SCARF syndrome

Preferred Label : SCARF syndrome;

ICD-11 definition : SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities.;

Details

Origin ID

1075253748;

UMLS CUI

C1839321;

Currated CISMeF NLP mapping
- SCARF syndrome [ORDO Disease]
- SCARF syndrome [MeSH concept]
- SCARF syndrome [MeSH Supplementary Concept]
- Scarf syndrome [OMIM Phenotype]
- Skeletal abnormality, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormality syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- SCARF syndrome [MeSH concept]
- SCARF syndrome [MeSH Supplementary Concept]
- SCARF syndrome [ORDO Disease]
- 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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