Split-Hand-Foot Malformation With Long Bone Deficiency 3

Preferred Label : Split-Hand-Foot Malformation With Long Bone Deficiency 3;

CISMeF synonym : Split-Hand/Foot malformation with long bone deficiency 3;

MeSH synonym : SHFLD3;

Details

Origin ID

C567245;

UMLS CUI

C2675492;

Currated CISMeF NLP mapping
- Chromosome 17p13.3, telomeric, duplication syndrome [OMIM Phenotype]
MeSH term(s) associated for indexing
- limb deformities, congenital [MeSH Descriptor]
Record concept(s)
- Split-Hand-Foot Malformation With Long Bone Deficiency 3 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Chromosome 17p13.3, telomeric, duplication syndrome [OMIM Phenotype]

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