chromosome disorders

Preferred Label : chromosome disorders;

MeSH definition : Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429);

MeSH synonym : chromosomal disorders; disorder, chromosome; disorder, chromosome abnormality; chromosome disorder; disorders, chromosome; chromosome abnormality disorders; chromosome abnormality disorder; chromosomal disorder; disorder, chromosomal; disorders, chromosomal;

MeSH hyponym : autosomal chromosome disorders; Autosomal Chromosome Disorder; Chromosome Disorder, Autosomal; Chromosome Disorders, Autosomal;

MeSH annotation : GEN or unspecified; prefer specifics; coord IM with specific numbered chromosome (IM); general or unspecified; prefer specifics; coordinate with specific numbered chromosome;

Details

Origin ID

D025063;

UMLS CUI

C0008626;

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)
- Autosomal chromosomal disorder (disorder) [SNOMED CT concept]
- Autosomal chromosome anomaly NOS [MedDRA LLT]
- Chromosomal disorder [ACR pathology]
- Chromosomal disorders [HPMULTI term]
- chromosomal disease [DO Concept]
- chromosomal disorders [EMDN type]
- chromosomal disorders [medical devices type]
CISMeF manual mappings
- autosomal disorder [Disease (Nov.)]
Currated CISMeF NLP mapping
- CHROMOSOME DISORDER [WHO-ART High Level Term]
- Chromosomal anomalies [MedDRA LLT]
- Chromosomal disorder (disorder) [SNOMED CT concept]
- Chromosome Disorder [NCIt concept]
- Chromosome abnormality [MedDRA LLT]
- Chromosome disorder [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [ICD-9 code]
- Rare chromosomal anomaly [ORDO Disease]
- chromosomal disease, nos [TUV Term]
- chromosomal disease, nos [SNOMED Notion]
- chromosome disorder [Disease (Nov.)]
False UMLS correspondences (reviewed by CISMeF team)
- Autosomal chromosomal abnormalities [MedDRA High Level Term]
False automatic mappings
- Autosomal chromosomal abnormalities [MedDRA High Level Term]
- Autosomal chromosome anomaly [MedDRA Preferred Term]
Record concept(s)
- autosomal chromosome disorders [MeSH concept]
- chromosome disorders [MeSH concept]
Related MeSH Supplementary Concept(s)
- 10p deletion syndrome (Partial) [MeSH Supplementary Concept]
- 13q deletion syndrome [MeSH Supplementary Concept]
- 15q24 microdeletion [MeSH Supplementary Concept]
- 16p11.2 deletion syndrome [MeSH Supplementary Concept]
- 6q+ syndrome, partial [MeSH Supplementary Concept]
- 7p2 monosomy syndrome [MeSH Supplementary Concept]
- 9q22.3 microdeletion [MeSH Supplementary Concept]
- Contiguous Abcd1-Dxs1375e Deletion Syndrome [MeSH Supplementary Concept]
- NF1 microduplication syndrome [MeSH Supplementary Concept]
- Potocki-Lupski syndrome [MeSH Supplementary Concept]
- Potocki-Shaffer syndrome [MeSH Supplementary Concept]
- Schaaf-Yang syndrome [MeSH Supplementary Concept]
- Schmid-Fraccaro syndrome [MeSH Supplementary Concept]
- chromosome 10q duplication syndrome [MeSH Supplementary Concept]
- chromosome 13q-mosaicism [MeSH Supplementary Concept]
- chromosome 15q13.3 microdeletion syndrome [MeSH Supplementary Concept]
- chromosome 17p13.3 duplication syndrome [MeSH Supplementary Concept]
- chromosome 18 deletion syndrome [MeSH Supplementary Concept]
- chromosome 18p deletion syndrome [MeSH Supplementary Concept]
- chromosome 19q13.11 deletion syndrome [MeSH Supplementary Concept]
- chromosome 1p36 deletion syndrome [MeSH Supplementary Concept]
- chromosome 22, monosome mosaic [MeSH Supplementary Concept]
- chromosome 3 duplication syndrome [MeSH Supplementary Concept]
- chromosome 3q29 duplication syndrome [MeSH Supplementary Concept]
- chromosome 4, 4q terminal deletion syndrome [MeSH Supplementary Concept]
- chromosome 4q- syndrome [MeSH Supplementary Concept]
- chromosome 5p13 duplication syndrome [MeSH Supplementary Concept]
- chromosome 6 ring syndrome [MeSH Supplementary Concept]
- chromosome 7 ring syndrome [MeSH Supplementary Concept]
- chromosome Xp11.23-P11.22 duplication syndrome [MeSH Supplementary Concept]
- delayed cranial ossification due to CBFB haploinsufficiency [MeSH Supplementary Concept]
- deletion 13q syndrome, partial [MeSH Supplementary Concept]
- distal trisomy 10q syndrome [MeSH Supplementary Concept]
- duplication 4p syndrome [MeSH Supplementary Concept]
- edinburgh malformation syndrome [MeSH Supplementary Concept]
- emanuel syndrome [MeSH Supplementary Concept]
- fragile site 16p12 [MeSH Supplementary Concept]
- isodicentric chromosome 15 syndrome [MeSH Supplementary Concept]
- mental retardation, Fra12a type [MeSH Supplementary Concept]
- monosomy 7 of bone marrow [MeSH Supplementary Concept]
- mosaic variegated aneuploidy syndrome [MeSH Supplementary Concept]
- otodental dysplasia [MeSH Supplementary Concept]
- pallister killian syndrome [MeSH Supplementary Concept]
- partial duplication 15q syndrome [MeSH Supplementary Concept]
- partial trisomy 3q syndrome [MeSH Supplementary Concept]
- recombinant chromosome 8 syndrome [MeSH Supplementary Concept]
- ring chromosome 4 syndrome [MeSH Supplementary Concept]
- telomeric 22q13 monosomy syndrome [MeSH Supplementary Concept]
- thrombocytopenia chromosome breakage [MeSH Supplementary Concept]
- trisomy 18-Like syndrome [MeSH Supplementary Concept]
- trisomy 22 mosaicism syndrome [MeSH Supplementary Concept]
- warburton anyane yeboa syndrome [MeSH Supplementary Concept]
See also
- chromosome aberrations [MeSH Descriptor]
- cytogenetics [MeSH Descriptor]
- genetics, medical [MeSH Descriptor]
See also (suggested by CISMeF)
- chromosomes [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CHROMOSOME ABNORMALITY [WHO-ART Included Term]
- CHROMOSOME DISORDER [WHO-ART High Level Term]
- Chromosomal abnormality NOS [MedDRA LLT]
- Chromosomal abnormality, unspecified [ICD-10 Sub-category]
- Chromosomal abnormality, unspecified [ICD-10 Sub-category (who)]
- Chromosomal anomalies [ICD-9 code]
- Chromosomal anomalies [MedDRA LLT]
- Chromosomal disorder (disorder) [SNOMED CT concept]
- Chromosome Disorder [NCIt concept]
- Chromosome abnormality [MedDRA LLT]
- Chromosome disorder [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [MedDRA LLT]
- Conditions due to anomaly of unspecified chromosome [ICD-9 code]
- Congenital disorder due to abnormality of chromosome number OR structure (disorder) [SNOMED CT concept]
- Cytogenetic abnormality [MedDRA Preferred Term]
- autosomal disorder [Disease (Nov.)]
- chromosomal disease, nos [SNOMED Notion]

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