ORPHA:262010

Partial deletion of the long arm of chromosome 2 syndrome

Synonyms: Partial deletion of chromosome 2q · Partial monosomy of chromosome 2q · Partial monosomy of the long arm of chromosome 2

Type: Category
Group: Group of disorders
Status: active

This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Partial deletion of the long arm of chromosome 2 syndrome	Partial deletion of chromosome 2q · Partial monosomy of chromosome 2q · Partial monosomy of the long arm of chromosome 2
fr	Syndrome de délétion partielle du bras long du chromosome 2	Délétion partielle du chromosome 2q · Monosomie partielle du bras long du chromosome 2 · Monosomie partielle du chromosome 2q
de	Chromosom 2q-Deletion, partielle	Chromosom 2, partielle Deletion des langen Arms · Partielle Monosomie 2q · Partielle Monosomie des langen Arms von Chromosom 2
es	Síndrome de deleción parcial del brazo largo del cromosoma 2	Deleción parcial del cromosoma 2q · Monosomía parcial del brazo largo del cromosoma 2 · Monosomía parcial del cromosoma 2q
it	Sindrome delezione parziale del braccio lungo del cromosoma 2	Delezione parziale del cromosoma 2q · Monosomia parziale del braccio lungo del cromosoma 2 · Monosomia parziale del cromosoma 2q
nl	Partiële deletie van de lange arm van chromosoom 2-syndroom	Partiële monosomie van chromosoom 2q · Partiële monosomie van de lange arm van chromosoom 2 · Partiële deletie van chromosoom 2q
pt	Monossomia parcial do braço longo do cromossoma 2
pl	Zespół częściowej delecji długiego ramienia chromosomu 2	Częściowa delecja chromosomu 2q · Cześciowa monosomia chromosomu 2q · Częściowa monosomia długiego ramienia chromosomu 2
cs	Parciální delece dlouhého raménka chromozomu 2	Parciální delece chromozomu 2q · Parciální monozomie chromozomu 2q · Parciální monozomie dlouhého raménka chromozomu 2
uk	Часткова делеція довгого плеча хромосоми 2	Часткова делеція хромосоми 2q · Часткова моносомія хромосоми 2q · Часткова моносомія довгого плеча хромосоми 2
zh	2号染色体长臂部分缺失	2号染色体长臂部分单体
tr	2. kromozomun uzun kolunun kısmen delesyonu	2q kromozomunun kısmi delesyonu · 2q kromozomunun kısmi monozomisi · 2. kromozomun uzun kolunun kısmi monozomisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-11	LD44.20	E	specific	validated
MONDO	0016901	E		validated
MONDO	16901	E		validated
MeSH	C538315	E		validated
UMLS	C0795804	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:261771Partial deletion of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

Children (7):

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/262010
This record as JSON: /data/d/262010.json