thanatophoric dysplasia, type 2

Preferred Label : thanatophoric dysplasia, type 2;

MeSH synonym : thanatophoric dysplasia with kleeblattschaedel; cloverleaf skull with thanatophoric dwarfism; thanatophoric dysplasia, type ii; thanatophoric dysplasia with straight femurs and cloverleaf skull;

Details

Origin ID

C536508;

UMLS CUI

C1300257;

Automatic exact mappings (from CISMeF team)
- Thanatophoric dysplasia, type I [OMIM Phenotype]
Currated CISMeF NLP mapping
- Thanatophoric dysplasia type 2 [ORDO Disease]
- Thanatophoric dysplasia type II [ICD-11 More detail]
- Thanatophoric dysplasia, type 2 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type II [OMIM Phenotype]
- Type 2 Thanatophoric Dysplasia [NCIt concept]
MeSH term(s) associated for indexing
- skull [MeSH Descriptor]
- thanatophoric dysplasia [MeSH Descriptor]
Record concept(s)
- Thanatophoric dysplasia, type 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dysplasia type II [ICD-11 More detail]
- Thanatophoric dysplasia, type 2 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type II [OMIM Phenotype]
- Type 2 Thanatophoric Dysplasia [NCIt concept]

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