acromesomelic dysplasia

Preferred Label : acromesomelic dysplasia;

CISMeF synonym : acromesomelic dwarfism maroteux type; acromesomelic dysplasia, Hunter-Thompson type;

MeSH synonym : st helena dysplasia; st. helena dysplasia; acromesomelic dwarfism;

MeSH hyponym : Acromesomelic dysplasia Hunter Thompson type; Acromesomelic dysplasia Hunter-Thompson type;

Details

Origin ID

C535658;

UMLS CUI

C5235036;

Automatic exact mappings (from CISMeF team)
- Acromesomelic dysplasia [MedDRA Preferred Term]
- Acromesomelic dysplasia, Hunter-Thompson type [ORDO Disease]
CISMeF manual mappings
- Acromesomelic dysplasia group (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Acromesomelic dysplasia [OMIM phenotypic series]
- Acromesomelic dysplasia [ORDO Disease]
- Acromesomelic dysplasia (disorder) [Inactive SNOMED CT concept]
- Acromesomelic dysplasias [ICD-11 Subcategory]
- acromesomelic dysplasia [DO Concept]
- acromesomelic dysplasia syndrome [SNOMED Notion]
MeSH term(s) associated for indexing
- dwarfism [MeSH Descriptor]
- osteochondrodysplasias [MeSH Descriptor]
ORDO relation(s)
- Acromesomelic dysplasia [ORDO Disease]
Record concept(s)
- Acromesomelic Dysplasia, Hunter-Thompson Type [MeSH concept]
- Acromesomelic dysplasia [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acromesomelic dysplasia [MedDRA Preferred Term]
- Acromesomelic dysplasia 2c [OMIM Phenotype]
- Acromesomelic dysplasia group (disorder) [SNOMED CT concept]
- Acromesomelic dysplasia, Hunter-Thompson type [ORDO Disease]
- Acromesomelic dysplasia, Hunter-Thomson type [ICD-11 More detail]
- Acromesomelic dysplasias [ICD-11 Subcategory]
- acromesomelic dysplasia [DO Concept]
- acromesomelic dysplasia, Hunter-Thompson type [DO Concept]
Validated automatic mappings to BTNT
- Acromesomelic dysplasia 1 [OMIM Phenotype]
- Acromesomelic dysplasia 2c [OMIM Phenotype]
- acromesomelic dysplasia, Hunter-Thompson type [DO Concept]

Keyword's position in hierarchy(ies) :

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