Split-Hand/Foot Malformation Type 1

Preferred Label : Split-Hand/Foot Malformation Type 1;

NCIt synonyms : Split-Hand/Foot Malformation 1; Split Hand Foot Malformation Type 1;

NCIt definition : Split-hand/foot malformation mapped to chromosome 7q21.3;

Details

Origin ID

C75045;

UMLS CUI

C2931019;

Automatic exact mappings (from CISMeF team)
- ectrodactyly [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Split-hand/foot malformation 1 [OMIM Phenotype]
- split hand foot deformity [MeSH concept]
- split hand-foot malformation 1 [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Split-hand/foot malformation 1 [OMIM Phenotype]
- split hand foot deformity 1 [MeSH concept]
Validated automatic mappings to NTBT
- Isolated split hand-split foot malformation [ORDO Disease]
- split hand foot deformity [MeSH Supplementary Concept]
- split hand foot deformity 1 [MeSH concept]
- split hand foot malformation [Disease (Nov.)]
- split hand-foot malformation [DO Concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SEM1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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