osteolysis syndrome recessive

Preferred Label : osteolysis syndrome recessive;

MeSH synonym : osteolysis, distal, with short stature, mental retardation, and characteristic facial appearance; osteolysis syndrome, recessive;

Détails

Origin ID

C536052;

UMLS CUI

C1850143;

Automatic exact mappings (from CISMeF team)
- Osteolysis syndrome, recessive [OMIM Phenotype]
Has phenotype(s) (HPO)
- Absent distal and middle phalanges [HPO term]
- Knee contractures [HPO term]
MeSH term(s) associated for indexing
- facies [MeSH Descriptor]
- growth disorders [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- osteolysis [MeSH Descriptor]
Record concept(s)
- Osteolysis syndrome recessive [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive distal osteolysis syndrome [ORDO Disease]
- Autosomal recessive distal osteolysis syndrome (disorder) [SNOMED CT concept]
- Osteolysis syndrome, recessive [OMIM Phenotype]

Position du mot-clé dans l'(les) arborescence(s) :

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