Split-hand-foot malformation with long bone deficiency

Preferred Label : Split-hand-foot malformation with long bone deficiency;

CISMeF synonym : split-hand/foot malformation with long bone deficiency; Split-Hand/Foot malformation with long bone deficiency 1; tibial aplasia with split-hand/split-foot deformity; Split-Hand-Foot Malformation With Long Bone Deficiency 1;

MeSH synonym : ectrodactyly with aplasia of long bones; aplasia of tibia with ectrodactyly; cleft hand absent tibia; cleft hand and absent tibia; Tibial aplasia with split-hand-split-foot deformity;

Details

Origin ID

C536425;

UMLS CUI

C4551989;

Currated CISMeF NLP mapping
- Split-hand/foot malformation with long bone deficiency 1 [OMIM Phenotype]
- Tibial aplasia and ectrodactyly syndrome (disorder) [SNOMED CT concept]
- Tibial aplasia-ectrodactyly syndrome [ORDO Disease]
- split hand foot malformation with long bone deficiency [Disease (Nov.)]
MeSH term(s) associated for indexing
- limb deformities, congenital [MeSH Descriptor]
- tibia [MeSH Descriptor]
Record concept(s)
- Split-Hand-Foot Malformation With Long Bone Deficiency 1 [MeSH concept]
- Split-hand-foot malformation with long bone deficiency [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split-hand/foot malformation with long bone deficiency 1 [OMIM Phenotype]
- Tibial aplasia and ectrodactyly syndrome (disorder) [SNOMED CT concept]
- Tibial aplasia-ectrodactyly syndrome [ORDO Disease]

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