Ectrodactyly - CISMeF

Preferred Label : Ectrodactyly;

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

NCIt definition : A rare genetic disorder often inherited in an autosomal manner characterized by limb malformations including syndactyly, median clefts of the hands and/or feet, and partial or complete absence of fingers or toes. It may be associated with other skeletal and extraskeletal abnormalities.;

Details

Origin ID

C75000;

UMLS CUI

C0265554;

Automatic exact mappings (from CISMeF team)
- Ectrodactyly [HPO term]
- Ectrodactyly [PASCAL descriptor]
- Ectrodactyly [MedDRA Preferred Term]
- Ectrodactyly (disorder) [SNOMED CT concept]
- Split hand [ICD-11 Subcategory]
- Split-hand/foot malformation [OMIM phenotypic series]
- ectrodactyly [SNOMED Notion]
- ectrodactyly [MeSH Supplementary Concept]
- ectrodactyly [MeSH concept]
- split hand foot deformity 1 [MeSH concept]
Currated CISMeF NLP mapping
- Isolated split hand-split foot malformation [ORDO Disease]
- Split-hand/foot malformation 1 [OMIM Phenotype]
- split hand foot deformity [MeSH Supplementary Concept]
- split hand foot deformity [MeSH concept]
- split hand foot malformation [Disease (Nov.)]
- split hand-foot malformation [DO Concept]
- split hand-foot malformation 1 [DO Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Ectrodactyly [MedDRA Preferred Term]
- Ectrodactyly [HPO term]
- Ectrodactyly (disorder) [SNOMED CT concept]
- Isolated split hand-split foot malformation [ORDO Disease]
- Split hand [ICD-11 Subcategory]
- congenital cleft hand [SNOMED Notion]
- ectrodactyly [MeSH Supplementary Concept]
- ectrodactyly [MeSH concept]
- ectrodactyly [SNOMED Notion]
- split hand-foot malformation [DO Concept]
- split hand-foot malformation 2 [DO Concept]
- split hand-foot malformation 3 [DO Concept]
- split hand-foot malformation 4 [DO Concept]
- split hand-foot malformation 5 [DO Concept]
- split hand-foot malformation 6 [DO Concept]
associated_with_malfunction_of_gene_product
- Tumor Protein 63 [NCIt concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_associated_gene
- TP63 Gene [NCIt concept]
- TP63 wt Allele [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]

Keyword's position in hierarchy(ies) :

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