Other deletions of part of a chromosome

Preferred Label : Other deletions of part of a chromosome;

Inclusion CIM-10 : Angelman syndrome;

Diag associé à un acte (%) : 84.6;

Source : OMS;

Date de début : 01/01/1997;

Details

Origin ID

Q935;

UMLS CUI

C0478099;

Automatic exact mappings (from CISMeF team)
- Angelman Syndrome [NCIt concept]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome [ICD-11 Subcategory]
- Angelman syndrome [OMIM Phenotype]
- Angelman syndrome [PASCAL descriptor]
- Angelman syndrome (disorder) [SNOMED CT concept]
- Angelman's syndrome [MedDRA Preferred Term]
- angelman syndrome [MeSH Descriptor]
- angelman syndrome [MeSH concept]
- ubiquitin protein ligase E3A [ORDO Gene]
- ubiquitin protein ligase E3A [HGNC gene]
DO Cross reference
- 3p deletion syndrome [DO Concept]
- NFIA-related disorder [DO Concept]
- SATB2-associated syndrome [DO Concept]
- Smith-Magenis syndrome [DO Concept]
- chromosome 13q14 deletion syndrome [DO Concept]
- chromosome 15q13.3 microdeletion syndrome [DO Concept]
- chromosome 15q24 deletion syndrome [DO Concept]
- chromosome 15q26-qter deletion syndrome [DO Concept]
- chromosome 16p11.2 deletion syndrome [DO Concept]
- chromosome 16p12.2-p11.2 deletion syndrome [DO Concept]
- chromosome 17q12 deletion syndrome [DO Concept]
- chromosome 17q23.1-q23.2 deletion syndrome [DO Concept]
- chromosome 18q deletion syndrome [DO Concept]
- chromosome 1q21.1 deletion syndrome [DO Concept]
- chromosome 1q41-q42 deletion syndrome [DO Concept]
- chromosome 2p16.1-p15 deletion syndrome [DO Concept]
- chromosome 6pter-p24 deletion syndrome [DO Concept]
- chromosome 8q21.11 deletion syndrome [DO Concept]
- chromosome 9p deletion syndrome [DO Concept]
- distal 10q deletion syndrome [DO Concept]
Orphanet concepts
- 10q22.3q23.3 microdeletion syndrome [ORDO Disease]
- 11q22.2q22.3 microdeletion syndrome [ORDO Disease]
- 12p12.1 microdeletion syndrome [ORDO Disease]
- 12q14 microdeletion syndrome [ORDO Disease]
- 12q15q21.1 microdeletion syndrome [ORDO Disease]
- 13q12.3 microdeletion syndrome [ORDO Disease]
- 14q11.2 microdeletion syndrome [ORDO Disease]
- 14q22q23 microdeletion syndrome [ORDO Disease]
- 14q24.1q24.3 microdeletion syndrome [ORDO Disease]
- 15q11.2 microdeletion syndrome [ORDO Disease]
- 15q13.3 microdeletion syndrome [ORDO Disease]
- 15q14 microdeletion syndrome [ORDO Disease]
- 15q24 microdeletion syndrome [ORDO Disease]
- 16p11.2p12.2 microdeletion syndrome [ORDO Disease]
- 16p13.11 microdeletion syndrome [ORDO Disease]
- 16q24.1 microdeletion syndrome [ORDO Disease]
- 16q24.3 microdeletion syndrome [ORDO Disease]
- 17q12 microdeletion syndrome [ORDO Disease]
- 17q21.31 microdeletion syndrome [ORDO Disease]
- 17q23.1q23.2 microdeletion syndrome [ORDO Disease]
- 19p13.12 microdeletion syndrome [ORDO Disease]
- 19p13.13 microdeletion syndrome [ORDO Disease]
- 19q13.11 microdeletion syndrome [ORDO Disease]
- 1p21.3 microdeletion syndrome [ORDO Disease]
- 1p31p32 microdeletion syndrome [ORDO Disease]
- 1p35.2 microdeletion syndrome [ORDO Disease]
- 1p36 deletion syndrome [ORDO Disease]
- 1q21.1 microdeletion syndrome [ORDO Disease]
- 1q41q42 microdeletion syndrome [ORDO Disease]
- 1q44 microdeletion syndrome [ORDO Disease]
- 20p12.3 microdeletion syndrome [ORDO Disease]
- 20p13 microdeletion syndrome [ORDO Disease]
- 20q11.2 microdeletion syndrome [ORDO Disease]
- 20q11.2 microduplication syndrome [ORDO Disease]
- 20q13.33 microdeletion syndrome [ORDO Disease]
- 21q22.11q22.12 microdeletion syndrome [ORDO Disease]
- 2p13.2 microdeletion syndrome [ORDO Disease]
- 2p15p16.1 microdeletion syndrome [ORDO Disease]
- 2p21 microdeletion syndrome [ORDO Disease]
- 2p21 microdeletion syndrome without cystinuria [ORDO Disease]
- 2q23.1 microdeletion syndrome [ORDO Disease]
- 2q24 microdeletion syndrome [ORDO Disease]
- 2q31.1 microdeletion syndrome [ORDO Disease]
- 2q32q33 microdeletion syndrome [ORDO Disease]
- 2q37 microdeletion syndrome [ORDO Disease]
- 3p25.3 microdeletion syndrome [ORDO Disease]
- 3q13 microdeletion syndrome [ORDO Disease]
- 3q26q27 microdeletion syndrome [ORDO Disease]
- 3q27.3 microdeletion syndrome [ORDO Disease]
- 3q29 microdeletion syndrome [ORDO Disease]
- 4q21 microdeletion syndrome [ORDO Disease]
- 5q14.3 microdeletion syndrome [ORDO Disease]
- 6p22 microdeletion syndrome [ORDO Disease]
- 6q terminal deletion syndrome [ORDO Disease]
- 6q16 microdeletion syndrome [ORDO Disease]
- 6q25 microdeletion syndrome [ORDO Disease]
- 7q31 microdeletion syndrome [ORDO Disease]
- 8p11.2 deletion syndrome [ORDO Disease]
- 8p23.1 microdeletion syndrome [ORDO Disease]
- 8q21.11 microdeletion syndrome [ORDO Disease]
- 8q22.1 microdeletion syndrome [ORDO Disease]
- 9p13 microdeletion syndrome [ORDO Disease]
- 9q31.1q31.3 microdeletion syndrome [ORDO Disease]
- Angelman syndrome [ORDO Disease]
- Angelman syndrome due to a point mutation [ORDO Disease]
- Angelman syndrome due to imprinting defect in 15q11-q13 [ORDO Disease]
- Angelman syndrome due to maternal 15q11q13 deletion [ORDO Disease]
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 [ORDO Disease]
- Autosomal monosomy [ORDO Disease]
- DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion [ORDO Disease]
- Deafness-infertility syndrome [ORDO Disease]
- Deletion 20p [ORDO Disease]
- Deletion 4q [ORDO Disease]
- Deletion 5q35 [ORDO Disease]
- Distal 16p11.2 microdeletion syndrome [ORDO Disease]
- Distal 17p13.1 microdeletion syndrome [ORDO Disease]
- Distal 17p13.3 microdeletion syndrome [ORDO Disease]
- Distal 22q11.2 microdeletion syndrome [ORDO Disease]
- Distal 7q11.23 microdeletion syndrome [ORDO Disease]
- Distal monosomy 10p [ORDO Disease]
- Distal monosomy 10q [ORDO Disease]
- Distal monosomy 12p [ORDO Disease]
- Distal monosomy 12q [ORDO Disease]
- Distal monosomy 13q [ORDO Disease]
- Distal monosomy 14q [ORDO Disease]
- Distal monosomy 15q [ORDO Disease]
- Distal monosomy 17q [ORDO Disease]
- Distal monosomy 19p13.3 [ORDO Disease]
- Distal monosomy 1q [ORDO Disease]
- Distal monosomy 20q [ORDO Disease]
- Distal monosomy 4q [ORDO Disease]
- Distal monosomy 6p [ORDO Disease]
- Distal monosomy 7p [ORDO Disease]
- Distal monosomy 7q36 [ORDO Disease]
- Distal monosomy 9p [ORDO Disease]
- FOXG1 syndrome due to 14q12 microdeletion [ORDO Disease]
- Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion [ORDO Disease]
- Homozygous 2p21 microdeletion syndrome [ORDO Disease]
- Ichthyosis-short stature-brachydactyly-microspherophakia syndrome [ORDO Disease]
- Jacobsen syndrome [ORDO Disease]
- Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion [ORDO Disease]
- Koolen-De Vries syndrome [ORDO Disease]
- Koolen-De Vries syndrome due to a point mutation [ORDO Disease]
- Monosomy 13q14 [ORDO Disease]
- Monosomy 13q34 [ORDO Disease]
- Monosomy 18p [ORDO Disease]
- Monosomy 18q [ORDO Disease]
- Monosomy 22q13.3 [ORDO Disease]
- Monosomy 9p [ORDO Disease]
- Monosomy 9q22.3 [ORDO Disease]
- Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion [ORDO Disease]
- Non-distal monosomy 10q [ORDO Disease]
- Non-distal monosomy 12q [ORDO Disease]
- Non-distal monosomy 20q [ORDO Disease]
- Non-distal monosomy 7p [ORDO Disease]
- Partial autosomal monosomy [ORDO Disease]
- Partial deletion of chromosome 1 [ORDO Disease]
- Partial deletion of chromosome 10 [ORDO Disease]
- Partial deletion of chromosome 11 [ORDO Disease]
- Partial deletion of chromosome 12 [ORDO Disease]
- Partial deletion of chromosome 16 [ORDO Disease]
- Partial deletion of chromosome 17 [ORDO Disease]
- Partial deletion of chromosome 18 [ORDO Disease]
- Partial deletion of chromosome 19 [ORDO Disease]
- Partial deletion of chromosome 2 [ORDO Disease]
- Partial deletion of chromosome 20 [ORDO Disease]
- Partial deletion of chromosome 3 [ORDO Disease]
- Partial deletion of chromosome 6 [ORDO Disease]
- Partial deletion of chromosome 7 [ORDO Disease]
- Partial deletion of chromosome 8 [ORDO Disease]
- Partial deletion of chromosome 9 [ORDO Disease]
- Partial deletion of the long arm of chromosome 1 [ORDO Disease]
- Partial deletion of the long arm of chromosome 11 [ORDO Disease]
- Partial deletion of the long arm of chromosome 12 [ORDO Disease]
- Partial deletion of the long arm of chromosome 13 [ORDO Disease]
- Partial deletion of the long arm of chromosome 14 [ORDO Disease]
- Partial deletion of the long arm of chromosome 15 [ORDO Disease]
- Partial deletion of the long arm of chromosome 16 [ORDO Disease]
- Partial deletion of the long arm of chromosome 17 [ORDO Disease]
- Partial deletion of the long arm of chromosome 18 [ORDO Disease]
- Partial deletion of the long arm of chromosome 19 [ORDO Disease]
- Partial deletion of the long arm of chromosome 2 [ORDO Disease]
- Partial deletion of the long arm of chromosome 20 [ORDO Disease]
- Partial deletion of the long arm of chromosome 21 [ORDO Disease]
- Partial deletion of the long arm of chromosome 22 [ORDO Disease]
- Partial deletion of the long arm of chromosome 3 [ORDO Disease]
- Partial deletion of the long arm of chromosome 4 [ORDO Disease]
- Partial deletion of the long arm of chromosome 5 [ORDO Disease]
- Partial deletion of the long arm of chromosome 6 [ORDO Disease]
- Partial deletion of the long arm of chromosome 7 [ORDO Disease]
- Partial deletion of the long arm of chromosome 8 [ORDO Disease]
- Partial deletion of the short arm of chromosome 1 [ORDO Disease]
- Partial deletion of the short arm of chromosome 10 [ORDO Disease]
- Partial deletion of the short arm of chromosome 11 [ORDO Disease]
- Partial deletion of the short arm of chromosome 12 [ORDO Disease]
- Partial deletion of the short arm of chromosome 16 [ORDO Disease]
- Partial deletion of the short arm of chromosome 18 [ORDO Disease]
- Partial deletion of the short arm of chromosome 19 [ORDO Disease]
- Partial deletion of the short arm of chromosome 2 [ORDO Disease]
- Partial deletion of the short arm of chromosome 3 [ORDO Disease]
- Partial deletion of the short arm of chromosome 6 [ORDO Disease]
- Partial deletion of the short arm of chromosome 7 [ORDO Disease]
- Partial deletion of the short arm of chromosome 8 [ORDO Disease]
- Partial deletion of the short arm of chromosome 9 [ORDO Disease]
- Partial monosomy of the long arm of chromosome 10 [ORDO Disease]
- Partial monosomy of the long arm of chromosome 9 [ORDO Disease]
- Partial monosomy of the short arm of chromosome 17 [ORDO Disease]
- Partial monosomy of the short arm of chromosome 20 [ORDO Disease]
- Paternal 20q13.2q13.3 microdeletion syndrome [ORDO Disease]
- Potocki-Shaffer syndrome [ORDO Disease]
- Proximal 16p11.2 microdeletion syndrome [ORDO Disease]
- SATB2-associated syndrome due to a chromosomal rearrangement [ORDO Disease]
- Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion [ORDO Disease]
- Smith-Magenis syndrome [ORDO Disease]
- Temple syndrome due to paternal 14q32.2 microdeletion [ORDO Disease]
- Xq21 microdeletion syndrome [ORDO Disease]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
Validated automatic mappings to BTNT
- 3p deletion syndrome [DO Concept]
- Angelman syndrome [DO Concept]
- Smith-Magenis syndrome [DO Concept]
- chromosome 13q14 deletion syndrome [DO Concept]
- chromosome 15q13.3 microdeletion syndrome [DO Concept]
- chromosome 15q24 deletion syndrome [DO Concept]
- chromosome 16p12.2-p11.2 deletion syndrome [DO Concept]
- chromosome 1q21.1 deletion syndrome [DO Concept]
- chromosome 9p deletion syndrome [DO Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients