dwarfism stiff joint ocular abnormalities

Preferred Label : dwarfism stiff joint ocular abnormalities;

MeSH synonym : moore federman syndrome; dwarfism with stiff joints and ocular abnormalities; Moore-Federman syndrome;

Details

Origin ID

C535724;

UMLS CUI

C0265349;

Currated CISMeF NLP mapping
- Dwarfism with stiff joints and ocular abnormalities [OMIM Phenotype]
- Moore-Federman syndrome [ORDO Disease]
- Moore-Federman syndrome (disorder) [SNOMED CT concept]
- moore-federman syndrome [SNOMED Notion]
Has phenotype(s) (HPO)
- Short limb dwarfism [HPO term]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- eye abnormalities [MeSH Descriptor]
- hand deformities, congenital [MeSH Descriptor]
- joint diseases [MeSH Descriptor]
Record concept(s)
- Dwarfism stiff joint ocular abnormalities [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Dwarfism with stiff joints and ocular abnormalities [OMIM Phenotype]
- Moore-Federman syndrome [ORDO Disease]
- Moore-Federman syndrome (disorder) [SNOMED CT concept]
- moore-federman syndrome [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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