cryptomicrotia brachydactyly syndrome

Preferred Label : cryptomicrotia brachydactyly syndrome;

MeSH note : Bilateral cryptomicrotia, brachytelomesophalangy, hypoplastic toe nails, and excess fingertip arch;

MeSH synonym : cryptomicrotia brachydactyly syndrome excess fingertip arch; tonoki ohura niikawa syndrome; Cryptomicrotia-Brachydactyly syndrome;

Détails

Origin ID

C536219;

UMLS CUI

C1852454;

Currated CISMeF NLP mapping
- Cryptomicrotia brachydactyly syndrome (disorder) [SNOMED CT concept]
- Cryptomicrotia-brachydactyly syndrome [OMIM Phenotype]
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome [ORDO Disease]
Has phenotype(s) (HPO)
- Short middle and distal phalanges of digits ii through v [HPO term]
MeSH term(s) associated for indexing
- abnormalities, multiple [MeSH Descriptor]
- brachydactyly [MeSH Descriptor]
- ear [MeSH Descriptor]
Record concept(s)
- Cryptomicrotia brachydactyly syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cryptomicrotia brachydactyly syndrome (disorder) [SNOMED CT concept]
- Cryptomicrotia-brachydactyly syndrome [OMIM Phenotype]
- Cryptomicrotia-brachydactyly-excess fingertip arch syndrome [ORDO Disease]

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