Thanatophoric Dysplasia

Preferred Label : Thanatophoric Dysplasia;

NCIt definition : A severe autosomal dominant inherited disorder caused by mutations in the FGFR3 gene. It is characterized by multiple skeletal abnormalities, including extremely short limbs. It results in the death of the neonate.;

Details

Origin ID

C85187;

UMLS CUI

C0039743;

Currated CISMeF NLP mapping
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dysplasia [ICD-11 Sub-sub category]
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- Thanatophoric short stature [ICD-10 Sub-category]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [DO Concept]
- thanatophoric dysplasia [MeSH Descriptor]
- thanatophoric dysplasia [MeSH concept]
- thanatophoric dysplasia [SNOMED Notion]
DO Cross reference
- thanatophoric dysplasia [DO Concept]
See also inter- (CISMeF)
- Thanatophoric dysplasia, type I [OMIM Phenotype]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dwarfism [MedDRA LLT]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia [ICD-11 Sub-sub category]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- Thanatophoric short stature [ICD-10 Sub-category]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [DO Concept]
- thanatophoric dysplasia [MeSH Descriptor]
- thanatophoric dysplasia [MeSH concept]
- thanatophoric dysplasia [SNOMED Notion]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- 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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