thanatophoric dysplasia

Preferred Label : thanatophoric dysplasia;

MeSH definition : A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.;

MeSH synonym : thanatophoric dwarfism; dwarfisms, thanatophoric; dysplasias, thanatophoric; dysplasia, thanatophoric; thanatophoric dwarfisms; thanatophoric dysplasias; dwarfism, thanatophoric; thanatophoric short stature;

Wikipedia link : https://en.wikipedia.org/wiki/Thanatophoric dysplasia;

Details

Origin ID

D013796;

UMLS CUI

C0039743;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Automatic exact mappings (from CISMeF team)
- Thanatophoric dysplasia, type I [OMIM Phenotype]
- Thanatophoric short stature [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Thanatophoric Dysplasia [NCIt concept]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dwarfism [ACR pathology]
- Thanatophoric dwarfism [ACR pathology]
- 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 [SNOMED Notion]
DO Cross reference
- thanatophoric dysplasia [DO Concept]
Manual NTBT mappings (CISMeF)
- Chondrodysplastic malformation syndrome [ORDO Disease]
- FGFR3-related chondrodysplasia [ORDO Disease]
- Thanatophoric dysplasia type 1 [ORDO Disease]
- Thanatophoric dysplasia type 2 [ORDO Disease]
Record concept(s)
- thanatophoric dysplasia [MeSH concept]
Related MeSH Supplementary Concept(s)
- kozlowski warren fisher syndrome [MeSH Supplementary Concept]
- larsen like syndrome, lethal type [MeSH Supplementary Concept]
- platyspondylic lethal skeletal dysplasia, torrance type [MeSH Supplementary Concept]
- short limb dwarf lethal colavita kozlowski type [MeSH Supplementary Concept]
- skeletal dysplasia, san diego type [MeSH Supplementary Concept]
- thanatophoric dysplasia glasgow variant [MeSH Supplementary Concept]
- thanatophoric dysplasia, type 2 [MeSH Supplementary Concept]
- thanatophoric dysplasia, type I [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [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 [ICD-11 Sub-sub category]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- Thanatophoric short stature [ICD-10 Sub-category]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [SNOMED Notion]
- thanatophoric dysplasia [DO Concept]

Keyword's position in hierarchy(ies) :

Main resources

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