Type 2 Thanatophoric Dysplasia

Preferred Label : Type 2 Thanatophoric Dysplasia;

NCIt related terms : Thanatophoric Dysplasia, Type 2;

NCIt definition : Thanatophoric dysplasia characterized by a cloverleaf-like skull and straight femurs.;

Details

Origin ID

C98584;

UMLS CUI

C1300257;

Currated CISMeF NLP mapping
- Thanatophoric dysplasia type 2 [ORDO Disease]
- Thanatophoric dysplasia type II [ICD-11 More detail]
- Thanatophoric dysplasia, type 2 [MeSH concept]
- Thanatophoric dysplasia, type 2 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type II [OMIM Phenotype]
- thanatophoric dysplasia, type 2 [MeSH Supplementary 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 [MeSH concept]
- Thanatophoric dysplasia, type 2 (disorder) [SNOMED CT concept]
- Thanatophoric dysplasia, type II [OMIM Phenotype]
- thanatophoric dysplasia, type 2 [MeSH Supplementary Concept]
concept_is_in_subset
- NICHD Terminology [NCIt concept]
- Neonatal Research Network Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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