Pterygium colli mental retardation digital anomalies

Preferred Label : Pterygium colli mental retardation digital anomalies;

UMLS semantic type : T047 - Disease or Syndrome;

Origin ID

M0530292;

UMLS CUI

C1838562;

Currated CISMeF NLP mapping
- Pterygium colli and impaired intellectual development with facial and digital anomalies [OMIM Phenotype]
- Pterygium colli-intellectual disability-digital anomalies syndrome [ORDO Disease]
Related record
- pterygium colli mental retardation digital anomalies [MeSH Supplementary 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]