amelogenesis imperfecta

Preferred Label : amelogenesis imperfecta;

MeSH definition : A clinically and genetically heterogeneous group of hereditary conditions characterized by malformed DENTAL ENAMEL, usually involving DENTAL ENAMEL HYPOPLASIA and/or TOOTH HYPOMINERALIZATION.;

MeSH synonym : congenital enamel hypoplasia;

Wikipedia link : https://en.wikipedia.org/wiki/Amelogenesis imperfecta;

Details

Origin ID

D000567;

UMLS CUI

C0002452;

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]
Currated CISMeF NLP mapping
- Amelogenesis imperfecta [PASCAL descriptor]
- Amelogenesis imperfecta [HPO term]
- Amelogenesis imperfecta [ORDO Disease]
- Amelogenesis imperfecta (disorder) [SNOMED CT concept]
- amelogenesis imperfecta [DO Concept]
- amelogenesis imperfecta [Disease (Nov.)]
DO Cross reference
- amelogenesis imperfecta [DO Concept]
HPO term
- Amelogenesis imperfecta [HPO term]
Indexing information
- AMELX protein, human [MeSH Supplementary Concept]
Localisation(s) d'après SNOMED CT
- dental enamel [MeSH Descriptor]
Manual NTBT mappings (CISMeF)
- Rare odontal or periodontal disorder [ORDO Disease]
ORDO relation(s)
- Amelogenesis imperfecta [ORDO Disease]
Record concept(s)
- amelogenesis imperfecta [MeSH concept]
Related MeSH Supplementary Concept(s)
- Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 1 [MeSH Supplementary Concept]
- Jalili syndrome [MeSH Supplementary Concept]
- amelogenesis imperfecta hypomaturation type [MeSH Supplementary Concept]
- amelogenesis imperfecta local hypoplastic form [MeSH Supplementary Concept]
- amelogenesis imperfecta nephrocalcinosis [MeSH Supplementary Concept]
- amelogenesis imperfecta pigmented hypomaturation type [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, Iia1 [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, Iia2 [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, Iia3 [MeSH Supplementary Concept]
- amelogenesis imperfecta, hypomaturation type, with Snow-Capped teeth [MeSH Supplementary Concept]
- amelogenesis imperfecta, type IB [MeSH Supplementary Concept]
- amelogenesis imperfecta, type III [MeSH Supplementary Concept]
- amelogenesis imperfecta, type IV [MeSH Supplementary Concept]
- amelogenesis imperfecta, type ic [MeSH Supplementary Concept]
- cone rod dystrophy amelogenesis imperfecta [MeSH Supplementary Concept]
- deafness enamel hypoplasia nail defects [MeSH Supplementary Concept]
- kohlschutter tonz syndrome [MeSH Supplementary Concept]
- verloes bourguignon syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- Amelogenesis imperfecta [ORDO Disease]
- Amelogenesis imperfecta [HPO term]
- Amelogenesis imperfecta [PASCAL descriptor]
- Amelogenesis imperfecta [MedDRA LLT]
- Amelogenesis imperfecta (disorder) [SNOMED CT concept]
- amelogenesis imperfecta [DO Concept]
- amelogenesis imperfecta [Disease (Nov.)]

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