pterygium colli mental retardation digital anomalies

Preferred Label : pterygium colli mental retardation digital anomalies;

MeSH synonym : pterygium colli and mental retardation with facial and digital anomalies; khalifa graham syndrome;

Details

Origin ID

C535831;

UMLS CUI

C1838562;

Currated CISMeF NLP mapping
- Pterygium colli and impaired intellectual development with facial and digital anomalies [OMIM Phenotype]
- Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) [SNOMED CT concept]
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- pterygium [MeSH Descriptor]
Record concept(s)
- Pterygium colli mental retardation digital anomalies [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pterygium colli and impaired intellectual development with facial and digital anomalies [OMIM Phenotype]
- Pterygium colli with intellectual disability and digital anomaly syndrome (disorder) [SNOMED CT concept]
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]

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