patterson pseudoleprechaunism syndrome

Preferred Label : patterson pseudoleprechaunism syndrome;

MeSH synonym : patterson's leprechaunoid syndrome;

Origin ID

C536310;

UMLS CUI

C1868546;

Currated CISMeF NLP mapping
- Patterson pseudoleprechaunism syndrome [OMIM Phenotype]
- Pseudoleprechaunism syndrome Patterson type (disorder) [SNOMED CT concept]
- Pseudoleprechaunism syndrome, Patterson type [ORDO Disease]
Has phenotype(s) (HPO)
- Disproportionately large nose [HPO term]
- Flat, irregular acetabular roofs [HPO term]
- Hypercortisolism [HPO term]
- Isolated cases [HPO term]
- Small, flat cervical vertebrae [HPO term]
- short, deformed tubular bones [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- bone diseases, developmental [MeSH Descriptor]
- hyperpigmentation [MeSH Descriptor]
ORDO relation(s)
- Pseudoleprechaunism syndrome, Patterson type [ORDO Disease]
Record concept(s)
- Patterson pseudoleprechaunism syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Patterson pseudoleprechaunism syndrome [OMIM Phenotype]
- Pseudoleprechaunism syndrome Patterson type (disorder) [SNOMED CT concept]
- Pseudoleprechaunism syndrome, Patterson type [ORDO Disease]