Thanatophoric short stature

Preferred Label : Thanatophoric short stature;

Rare : true;

Diag associé à un acte (%) : 100.0;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q771;

UMLS CUI

C0039743;

Currated CISMeF NLP mapping
- Thanatophoric Dysplasia [NCIt concept]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- thanatophoric dysplasia [MeSH Descriptor]
DO Cross reference
- thanatophoric dysplasia [DO Concept]
Orphanet concepts
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia type 1 [ORDO Disease]
- Thanatophoric dysplasia type 2 [ORDO Disease]
- Thanatophoric dysplasia, Glasgow variant [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric Dysplasia [NCIt concept]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dwarfism [MedDRA LLT]
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia [ICD-11 Sub-sub category]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- thanatophoric dysplasia [MeSH Descriptor]
- thanatophoric dysplasia [MeSH concept]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [SNOMED Notion]
- thanatophoric dysplasia [DO Concept]
Validated automatic mappings to BTNT
- Thanatophoric dysplasia [ICD-11 Sub-sub category]

Keyword's position in hierarchy(ies) :

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