cleidocranial dysplasia

Preferred Label : cleidocranial dysplasia;

MeSH definition : Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.;

MeSH synonym : cleidocranial dysostosis; dysostoses, cleidocranial; dysplasia, cleidocranial; cleidocranial dysostoses; cleidocranial dysplasias; dysostosis, cleidocranial; dysplasias, cleidocranial; Scheuthauer-Marie-Sainton syndrome; scheuthauer marie sainton syndrome; syndrome, Scheuthauer-Marie-Sainton; Marie-Sainton syndrome; marie sainton syndrome; syndrome, Marie-Sainton; cleidocranial digital dysostosis; cleidocranial digital dysostoses; dysostoses, cleidocranial digital; dysostosis, cleidocranial digital;

Wikipedia link : https://en.wikipedia.org/wiki/Cleidocranial dysostosis;

Details

Origin ID

D002973;

UMLS CUI

C0008928;

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)
- Cleidocranial dysplasia [ICD-11 More detail]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category]
- Other congenital malformations of upper limb(s), including shoulder girdle [ICD-10 Sub-category (who)]
Currated CISMeF NLP mapping
- Cleidocranial Dysplasia [NCIt concept]
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [PASCAL descriptor]
- Cleidocranial dysplasia [MedDRA LLT]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia 1 [OMIM Phenotype]
- Cleidocranial dysplasia and isolated cranial ossification defect [ORDO Disease]
- cleidocranial dysostosis [SNOMED Notion]
- cleidocranial dysplasia [DO Concept]
- cleidocranial dysplasia [Disease (Nov.)]
DO Cross reference
- cleidocranial dysplasia [DO Concept]
Manual BTNT mappings - CISMeF
- Craniosynostosis-anal anomalies-porokeratosis syndrome [ORDO Disease]
- Yunis-Varon syndrome [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Genetic cranial malformation [ORDO Disease]
- Non-chondrodysplastic malformation syndrome affecting bones [ORDO Disease]
- Rare bone disease [ORDO Disease]
- Rare genetic bone disease [ORDO Disease]
ORDO relation(s)
- Cleidocranial dysplasia [ORDO Disease]
Record concept(s)
- cleidocranial dysplasia [MeSH concept]
Related MeSH Supplementary Concept(s)
- cleidocranial dysplasia, forme fruste, dental anomalies only [MeSH Supplementary Concept]
- cleidocranial dysplasia, forme fruste, with brachydactyly [MeSH Supplementary Concept]
- cleidocranial dysplasia, recessive form [MeSH Supplementary Concept]
- parietal foramina with cleidocranial dysplasia [MeSH Supplementary Concept]
- yunis varon syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cleidocranial Dysplasia [NCIt concept]
- Cleidocranial dysostosis [MedDRA Preferred Term]
- Cleidocranial dysostosis (disorder) [SNOMED CT concept]
- Cleidocranial dysplasia [ORDO Disease]
- Cleidocranial dysplasia [MedDRA LLT]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [ACR pathology]
- Cleidocranial dysplasia [PASCAL descriptor]
- Cleidocranial dysplasia 1 [OMIM Phenotype]
- Cleidocranial dysplasia and isolated cranial ossification defect [ORDO Disease]
- cleidocranial dysostosis [SNOMED Notion]
- cleidocranial dysplasia [DO Concept]
- cleidocranial dysplasia [Disease (Nov.)]

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