Thanatophoric dysplasia

ICD-11 code : LD24.02;

Preferred Label : Thanatophoric dysplasia;

ICD-11 definition : Thanatophoric Dysplasia is a severe skeletal disorder that is lethal in the neonatal period. Two clinically defined TD subtypes have been classified: type I (TDI), characterized by micromelia with bowed femurs and, occasionally, by the presence of cloverleaf skull deformity of varying severity and type II (TDII), characterized by micromelia with straight femurs and a moderate to severe cloverleaf skull deformity.;

ICD-11 synonym : TD - [thanatophoric dwarfism]; thanatophoric dwarfism; thanatophoric dwarf; Thanatophoric short stature; thanatophoric dwarfism or short stature; thanatophoric dwarfism syndrome;

ICD-11 acronym : TD;

Détails

Origin ID

1668919215;

UMLS CUI

C0039743;

Currated CISMeF NLP mapping
- Thanatophoric Dysplasia [NCIt concept]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- thanatophoric dysplasia [SNOMED Notion]
- thanatophoric dysplasia [DO Concept]
- thanatophoric dysplasia [MeSH concept]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [MeSH Descriptor]
False automatic mappings
- Chad [NCIt concept]
- GDC Tumor Descriptor Terminology [NCIt concept]
- Tetanus and Diphtheria Toxoids Adsorbed [NCIt concept]
- Tetanus and diphtheria toxoid adsorbed for adult use (product) [Inactive SNOMED CT concept]
- Trial Disease Assessments Domain [NCIt concept]
- directed work [CISMeF resources Type]
- tetanus, diphtheria, and pertussis vaccines [MedlinePlus Topic]
- trends [MeSH Qualifier]
ICD-10 Mapping
- Thanatophoric short stature [ICD-10 Sub-category]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric Dysplasia [NCIt concept]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dwarfism [MedDRA LLT]
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia [MedDRA Preferred Term]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- Thanatophoric short stature [ICD-10 Sub-category]
- thanatophoric dysplasia [DO Concept]
- thanatophoric dysplasia [MeSH Descriptor]
- thanatophoric dysplasia [MeSH concept]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [SNOMED Notion]
Validated automatic mappings to BTNT
- Thanatophoric dysplasia, type I [OMIM Phenotype]
Validated automatic mappings to NTBT
- Thanatophoric short stature [ICD-10 Sub-category]

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