ORPHA:262101

Partial deletion of the long arm of chromosome 13 syndrome

Synonyms: Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q · Partial monosomy of the long arm of chromosome 13

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 13 syndrome	Partial deletion of chromosome 13q · Partial monosomy of chromosome 13q · Partial monosomy of the long arm of chromosome 13
fr	Syndrome de délétion partielle du bras long du chromosome 13	Délétion partielle du chromosome 13q · Monosomie partielle du chromosome 13q · Monosomie partielle du long court du chromosome 13
de	Chromosom 13q-Deletion, partielle	Chromosom 1,3 partielle Deletion des langen Arms · Partielle Monosomie 13q · Partielle Monosomie des langen Arms von Chromosom 13
es	Síndrome de deleción parcial del brazo largo del cromosoma 13	Deleción parcial del cromosoma 13q · Monosomía parcial del brazo largo del cromosoma 13 · Monosomía parcial del cromosoma 13q
it	Sindrome delezione parziale del braccio lungo del cromosoma 13	Delezione parziale del cromosoma 13q · Monosomia parziale del braccio lungo del cromosoma 13 · Monosomia parziale del cromosoma 13q
nl	Partiële deletie van de lange arm van chromosoom 13-syndroom	Partiële deletie van chromosoom 13q · Partiële monosomie van chromosoom 13q · Partiële monosomie van de lange arm van chromosoom 13
pt	Monossomia parcial do braço longo do cromossoma 13
pl	Zespół częściowej delecji długiego ramienia chromosomu 13	Częściowa delecja chromosomu 13q · Cześciowa monosomia chromosomu 13q · Częściowa monosomia długiego ramienia chromosomu 13
cs	Parciální delece dlouhého raménka chromozomu 13	Parciální delece chromozomu 13q · Parciální monozomie chromozomu 13q · Parciální monozomie dlouhého raménka chromozomu 13
uk	Часткова делеція довгого плеча хромосоми 13	Часткова делеція хромосоми 13q · Часткова моносомія хромосоми 13q · Часткова моносомія довгого плеча хромосоми 13
zh	13号染色体长臂部分缺失	13号染色体长臂部分单体
tr	13. kromozomun uzun kolunun kısmi delesyonu	13q kromozomunun kısmi delesyonu · 13q kromozomunun kısmi monozomisi · 13. kromozomun uzun kolunun kısmi monozomisi

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
MONDO	0016911	E	validated
MONDO	16911	E	validated
MeSH	C535484	E	validated
UMLS	C0265451	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:98142Partial autosomal deletion syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

Children (4):

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/262101
This record as JSON: /data/d/262101.json