Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Preferred Label : Split-Hand-Foot Malformation With Sensorineural Hearing Loss;

CISMeF synonym : Split-Hand/Foot malformation with sensorineural hearing loss;

MeSH synonym : deafness, congenital, and split hands and feet; SHFM1D;

Details

Origin ID

C565647;

UMLS CUI

C1857344;

Currated CISMeF NLP mapping
- Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Split hand-split foot-deafness syndrome [ORDO Disease]
- Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive [OMIM Phenotype]
- split hand-foot malformation 1 with sensorineural hearing loss [DO Concept]
MeSH term(s) associated for indexing
- foot deformities, congenital [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- hearing loss, sensorineural [MeSH Descriptor]
Record concept(s)
- Split-Hand-Foot Malformation With Sensorineural Hearing Loss [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Split hand, split foot malformation with sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Split hand-split foot-deafness syndrome [ORDO Disease]
- Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive [OMIM Phenotype]

Keyword's position in hierarchy(ies) :

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