205728002: Duplication of chromosome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\Chromosomal disorder (disorder)\Duplication of chromosome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

315494017 Duplication of chromosome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

591135018 Duplication of chromosome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

1696741000005116 kromosomduplikation da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Duplication of chromosome	Is a	Congenital disorder due to abnormality of chromosome number OR structure (disorder)	false	Inferred relationship	Some
Duplication of chromosome	Occurrence	Congenital	false	Inferred relationship	Some
Duplication of chromosome	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Duplication of chromosome	Finding site	Chromosome structure	false	Inferred relationship	Some	1
Duplication of chromosome	Associated morphology	kongenit anomali	false	Inferred relationship	Some	1
Duplication of chromosome	Is a	Chromosomal disorder (disorder)	true	Inferred relationship	Some
Duplication of chromosome	Finding site	Chromosome structure	false	Inferred relationship	Some
Duplication of chromosome	Finding site	Chromosome structure	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Autosomal duplication (disorder)	Is a	True	Duplication of chromosome	Inferred relationship	Some
The association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial, establishing a complementary duplication syndrome. The clinical presentation of patients is extremely variable and shares features with 22q11.2 deletion syndromes including heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.	Is a	False	Duplication of chromosome	Inferred relationship	Some
A rare X-linked genomic disorder associated with interstitial chromosomal duplications at Xq28 encompassing the MECP2 gene. In males the disease has characteristics of infantile onset hypotonia, severe global developmental delay, intellectual disability, progressive spasticity, seizures, gastrointestinal symptoms and recurrent respiratory infections. In females, the phenotype is more variable. The syndrome is due to Xq28 duplications (< 4 Mb) involving the dosage-sensitive gene MECP2. The pattern of inheritance is X-linked. The recurrence risk is significant if the duplication encompassing the MECP2 gene is inherited from the mother, but very low if the duplication is de novo. There is full disease penetrance in males and variable penetrance in females due to the level and type of X-inactivation.	Is a	False	Duplication of chromosome	Inferred relationship	Some
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance.	Is a	False	Duplication of chromosome	Inferred relationship	Some
A rare chromosomal anomaly clinically characterized by mild to severe intellectual disability, severe developmental delay (psychomotor and speech development), hypotonia with tendency to later develop progressive hypertonia, and characteristic facial features. The main congenital anomalies associated include central nervous system (CNS) malformations such as hypoplasia/agenesis of the corpus callosum (80%), skeletal abnormalities such as scoliosis/kyphosis or dislocated hips (60%), and congenital heart defects (25%).	Is a	True	Duplication of chromosome	Inferred relationship	Some
Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.	Is a	False	Duplication of chromosome	Inferred relationship	Some
A rare syndromic intellectual disability characterized by developmental delay and intellectual disability, learning and behavioral problems, short stature, thin and sparse hair, mild dysmorphic features, tapering fingers and later onset of scoliosis, obesity and cardiovascular problems (cardiomegaly and cardiomyopathy). Females have normal intelligence.	Is a	True	Duplication of chromosome	Inferred relationship	Some

This concept is not in any reference sets