fryns hofkens fabry syndrome

Preferred Label : fryns hofkens fabry syndrome;

CISMeF synonym : ulna hypoplasia;

MeSH synonym : upper limb mesomelic dysplasia;

Related MeSH term : ulnar hypoplasia;

Details

Origin ID

C538069;

UMLS CUI

C5574958;

Automatic exact mappings (from CISMeF team)
- Upper limb mesomelic dysplasia [ICD-11 More detail]
Currated CISMeF NLP mapping
- Hypoplasia of the ulna [HPO term]
- Mesomelic dysplasia of upper limb (disorder) [SNOMED CT concept]
- Ulnar hypoplasia [OMIM Phenotype]
- Upper limb mesomelic dysplasia [ORDO Disease]
HPO term
- Hypoplasia of the ulna [HPO term]
MeSH term(s) associated for indexing
- bone diseases, developmental [MeSH Descriptor]
- upper extremity deformities, congenital [MeSH Descriptor]
Record concept(s)
- Fryns Hofkens Fabry syndrome [MeSH concept]
- ulna hypoplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypoplasia of the ulna [HPO term]
- Mesomelic dysplasia of upper limb (disorder) [SNOMED CT concept]
- Ulnar hypoplasia [OMIM Phenotype]
- Upper limb mesomelic dysplasia [ORDO Disease]

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