microcephalic osteodysplastic primordial dwarfism, type II

Preferred Label : microcephalic osteodysplastic primordial dwarfism, type II;

MeSH note : PROM mutation in PCNT;

CISMeF synonym : microcephalic osteodysplastic primordial dwarfism with tooth abnormalities;

MeSH synonym : osteodysplastic primordial dwarfism, type 2; osteodysplastic primordial dwarfism, type II; microcephalic osteodysplastic primordial dwarfism, type 2; Mopd2; microcephalic osteodysplastic primordial dwarfism type II; majewski osteodysplastic primordial dwarfism type II; MopdII; osteodysplastic primordial dwarfism type ii; MOPD II;

Details

Origin ID

C565898;

UMLS CUI

C0432246;

Automatic exact mappings (from CISMeF team)
- Microcephalic osteodysplastic primordial dwarfism type 2 [ICD-11 More detail]
- Microcephalic osteodysplastic primordial dwarfism, type I [OMIM Phenotype]
- Microcephalic osteodysplastic primordial dwarfism, type III [OMIM Phenotype]
Currated CISMeF NLP mapping
- Microcephalic osteodysplastic primordial dwarfism type II [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism type II (disorder) [SNOMED CT concept]
- Microcephalic osteodysplastic primordial dwarfism, type II [OMIM Phenotype]
- Osteodysplastic primordial dwarfism, type 2 (disorder) [SNOMED CT concept]
- microcephalic osteodysplastic primordial dwarfism type 2 [Disease (Nov.)]
- microcephalic osteodysplastic primordial dwarfism type II [DO Concept]
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 with tooth abnormalities [MeSH concept]
- microcephalic osteodysplastic primordial dwarfism, type II [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalic osteodysplastic primordial dwarfism type II [ORDO Disease]
- Microcephalic osteodysplastic primordial dwarfism type II (disorder) [SNOMED CT concept]
- Microcephalic osteodysplastic primordial dwarfism, type II [OMIM Phenotype]
- Osteodysplastic primordial dwarfism, type 2 (disorder) [SNOMED CT concept]
- microcephalic osteodysplastic primordial dwarfism type 2 [Disease (Nov.)]
- microcephalic osteodysplastic primordial dwarfism type II [DO Concept]

Keyword's position in hierarchy(ies) :

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