omodysplasia type 1

Preferred Label : omodysplasia type 1;

MeSH note : mutation in GPC6;

MeSH synonym : omodysplasia generalized form; omodysplasia (Maroteaux); omodysplasia autosomal recessive form; omodysplasia, generalized form; omodysplasia 1; omodysplasia, autosomal recessive;

Details

Origin ID

C537746;

UMLS CUI

C1850318;

CISMeF manual mappings
- Autosomal recessive omodysplasia [ORDO Disease]
- Omodysplasia I (disorder) [Inactive SNOMED CT concept]
Currated CISMeF NLP mapping
- Autosomal recessive omodysplasia [ICD-11 More detail]
- Autosomal recessive omodysplasia (disorder) [SNOMED CT concept]
- Omodysplasia 1 [OMIM Phenotype]
DO Cross reference
- omodysplasia [DO Concept]
MeSH term(s) associated for indexing
- growth disorders [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
Record concept(s)
- Omodysplasia type 1 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal recessive omodysplasia [ORDO Disease]
- Autosomal recessive omodysplasia (disorder) [SNOMED CT concept]
- Omodysplasia 1 [OMIM Phenotype]
- omodysplasia 1 [DO Concept]

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