ORPHA:262842

Partial duplication of the long arm of chromosome 2 syndrome

Synonyms: Partial duplication of chromosome 2q · Partial trisomy of chromosome 2q · Partial trisomy 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 duplication of the long arm of chromosome 2 syndrome	Partial duplication of chromosome 2q · Partial trisomy of chromosome 2q · Partial trisomy of the long arm of chromosome 2
fr	Syndrome de duplication partielle du bras long du chromosome 2	Duplication partielle du chromosome 2q · Trisomie partielle du bras long du chromosome 2 · Trisomie partielle du chromosome 2q
de	Chromosom 2, partielle Duplikation des langen Arms	Chromosom 2q-Duplikation, partielle · Partielle Duplikation 2q · Partielle Trisomie des langen Arms von Chromosom 2
es	Síndrome de duplicación parcial del brazo largo del cromosoma 2	Duplicación parcial del cromosoma 2q · Trisomía parcial del brazo largo del cromosoma 2 · Trisomía parcial del cromosoma 2q
it	Sindrome duplicazione parziale del braccio lungo del cromosoma 2	Duplicazione parziale del cromosoma 2q · Trisomia parziale del braccio lungo del cromosoma 2 · Trisomia parziale del cromosoma 2q
nl	Partiële duplicatie van de lange arm van chromosoom 2-syndroom	Partiële duplicatie van chromosoom 2q · Partiële trisomie van chromosoom 2q · Partiële trisomie van de lange arm van chromosoom 2
pt	Trissomia parcial do braço longo do cromossoma 2
pl	Zespół częściowej duplikacji długiego ramienia chromosomu 2	Częściowa duplikacja chromosomu 2q · Częściowa trisomia chromosomu 2q · Częściowa trisomia długiego ramienia chromosomu 2
cs	Parciální duplikace dlouhého raménka chromozomu 2	Parciální duplikace 2q · Parciální trizomie 2q · Parciální trizomie dlouhého raménka chromozomu 2
uk	Часткове дуплікація довгого плеча хромосоми 2	Часткова дуплікація хромосоми 2q · Часткова трисомія хромосоми 2q · Часткова трисомія довгого плеча хромосоми 2
zh	2号染色体长臂部分重复	2号染色体长臂部分重复
tr	2. kromozomun uzun kolunun kısmi duplikasyonu	2q kromozomunun kısmi trizomisi · 2q kromozomunun kısmi duplikasyonu · 2. kromozomun uzun kolunun kısmi trizomisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-11	LD41.10	E	specific	validated
MONDO	0016953	E		validated
MONDO	16953	E		validated
UMLS	C5679706	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:262196Partial duplication of chromosome 2 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

Children (3):

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/262842
This record as JSON: /data/d/262842.json