cleidorhizomelic syndrome

Preferred Label : cleidorhizomelic syndrome;

MeSH note : Brachydactyly, enlarged diaphysis, rhizomelic micromelia, short stature/dwarfism and clavicle absent/abnormal.;

MeSH synonym : wallis zieff goldblatt syndrome; cleido rhizomelic syndrome; rhizomelic shortness with clavicular defect;

Détails

Origin ID

C536428;

UMLS CUI

C1861515;

CISMeF manual mappings
- Cleidorhizomelic syndrome [ORDO Disease]
- Cleidorhizomelic syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Cleidorhizomelic syndrome [OMIM Phenotype]
Has phenotype(s) (HPO)
- Hypoplasia of the middle phalanges of the hand [HPO term]
MeSH term(s) associated for indexing
- hip joint [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
- shoulder joint [MeSH Descriptor]
Record concept(s)
- Cleidorhizomelic syndrome [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleidorhizomelic syndrome [OMIM Phenotype]
- Cleidorhizomelic syndrome [ORDO Disease]
- Cleidorhizomelic syndrome (disorder) [SNOMED CT concept]

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