microcephalic primordial dwarfism toriello type

Preferred Label : microcephalic primordial dwarfism toriello type;

MeSH synonym : microcephalic primordial dwarfism and cataracts; microcephalic primordial dwarfism, toriello type;

Details

Origin ID

C537321;

UMLS CUI

C1855089;

Currated CISMeF NLP mapping
- Microcephalic primordial dwarfism of Toriello type (disorder) [SNOMED CT concept]
- Microcephalic primordial dwarfism, Toriello type [ICD-11 More detail]
- Microcephalic primordial dwarfism, Toriello type [ORDO Disease]
- Microcephalic primordial dwarfism, toriello type [OMIM Phenotype]
Has phenotype(s) (HPO)
- Mild micrognathia [HPO term]
- Proportionate dwarfism [HPO term]
- Short feet [HPO term]
MeSH term(s) associated for indexing
- cataract [MeSH Descriptor]
- dwarfism [MeSH Descriptor]
- intellectual disability [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
ORDO relation(s)
- Microcephalic primordial dwarfism, Toriello type [ORDO Disease]
Record concept(s)
- Microcephalic primordial dwarfism Toriello type [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic primordial dwarfism of Toriello type (disorder) [SNOMED CT concept]
- Microcephalic primordial dwarfism, Toriello type [ORDO Disease]
- Microcephalic primordial dwarfism, toriello type [OMIM Phenotype]

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