limb deficiencies, distal, with micrognathia

Preferred Label : limb deficiencies, distal, with micrognathia;

MeSH synonym : Split-Hand foot malformation 3;

Origin ID

C565437;

UMLS CUI

C1838652;

Currated CISMeF NLP mapping
- Buttiens-Fryns syndrome [ICD-11 More detail]
- Distal limb deficiencies-micrognathia syndrome [ORDO Disease]
- Distal limb deficiency with micrognathia syndrome (disorder) [SNOMED CT concept]
- Split-hand/foot malformation 3 [OMIM Phenotype]
- split hand-foot malformation 3 [DO Concept]
MeSH term(s) associated for indexing
- limb deformities, congenital [MeSH Descriptor]
- micrognathism [MeSH Descriptor]
Record concept(s)
- limb deficiencies, distal, with micrognathia [MeSH concept]
See also inter- (CISMeF)
- Split-Hand/Foot Malformation Type 3 [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Distal limb deficiencies-micrognathia syndrome [ORDO Disease]
- Split-Hand/Foot Malformation Type 3 [NCIt concept]
- Split-hand/foot malformation 3 [OMIM Phenotype]