microcephalic osteodysplastic primordial dwarfism, type 1

Preferred Label : microcephalic osteodysplastic primordial dwarfism, type 1;

MeSH synonym : cephaloskeletal dysplasia; taybi linder syndrome; osteodysplastic primordial dwarfism, type 1; brachymelic primordial dwarfism; low-birth-weight dwarfism with skeletal dysplasia; Taybi-Linder syndrome; microcephalic osteodysplastic primordial dwarfism, type I; osteodysplastic primordial dwarfism, type I; Mopd 1; MopdI; Mopd I; Mopd; Mopd1;

Details

Origin ID

C537577;

UMLS CUI

C1859452;

CISMeF manual mappings
- Osteodysplastic primordial dwarfism, type 1 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism, type I [OMIM Phenotype]
- microcephalic osteodysplastic primordial dwarfism type I [DO Concept]
- microcephalic osteodysplastic primordial dwarfism type I [Disease (Nov.)]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- fetal growth retardation [MeSH Descriptor]
- microcephaly [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Microcephalic osteodysplastic primordial dwarfism, type 1 [MeSH concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic osteodysplastic primordial dwarfism types I and III [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism, type I [OMIM Phenotype]
- Osteodysplastic primordial dwarfism, type 1 (disorder) [SNOMED CT concept]
- microcephalic osteodysplastic primordial dwarfism type I [DO Concept]
- microcephalic osteodysplastic primordial dwarfism type I [Disease (Nov.)]
Validated automatic mappings to NTBT
- Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) [SNOMED CT concept]

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