39220001: Chromosome pair 16 (cell structure)

SNOMED CT Concept\Body structure (body structure)\Anatomical or acquired body structure (body structure)\Anatomical structure\Cell\Subcellular structure\Chromosome structure\Chromosome\Chromosome pair 16

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

65781018 Chromosome pair 16 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1202987018 Chromosome pair 16 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chromosome pair 16	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 16	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
16q partial monosomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16q partial trisomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Complete trisomy 16 syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16p partial trisomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16p partial trisomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Complete trisomy 16 syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16q partial trisomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16q partial monosomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Chromosome 16p11.2 deletion syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16q partial monosomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16q partial trisomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Complete trisomy 16 syndrome	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
16p partial trisomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Anomaly of chromosome pair 16	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
16q partial monosomy syndrome	Finding site	False	Chromosome pair 16	Inferred relationship	Some	2
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	3
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16p13.11 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, epilepsy, short stature, facial dysmorphism and behavioral problems.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	3
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16q24.3 microdeletion syndrome is a recently described syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	3
Deletion of part of chromosome 16 (disorder)	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
Deletion of part of short arm of chromosome 16 (disorder)	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 16 (disorder)	Finding site	False	Chromosome pair 16	Inferred relationship	Some	3
Partial trisomy of chromosome 16	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Distal 16p11.2 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental delay, mild intellectual disability and autism spectrum disorder. Macrocephaly (apparent by 2 years of age), structural brain malformations, epilepsy, vertebral anomalies and obesity are frequently associated.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	3
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	5
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	6
A rare chromosomal anomaly syndrome, resulting from the partial deletion of chromosome 16, characterized by pre- and postnatal growth delay, severe developmental delay, intellectual disability, speech delay, and craniofacial dysmorphism (e.g. microcephaly, hypertelorism, downslanted palpebral fissures, ptosis, telecanthus, low set and dysmorphic ears, broad flat nasal bridge, down-turned mouth corners, high palate, retrognathia). Patients may also present congenital cataract, mild synophrys, hypotonia, and poor social contact. Congenital heart anomalies (e.g. ventricular septal defect, patent ductus arteriosus) have also been reported.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
Mosaic trisomy 16 syndrome	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Mosaic trisomy 16 syndrome	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
A microdeletion occurring on the short (p) arm of chromosome 16 at a location designated p12.2. Common characteristics of this disease include developmental delay, delayed speech, intellectual disability, hypotonia, short stature, microcephaly, cardiac malformations, recurrent epilepsy, psychiatric and behavioral problems. Manifestations vary even among affected members of the same family. Inherited in an autosomal dominant pattern with incomplete penetrance, in almost all known cases the chromosomal change has been inherited from a parent	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	Finding site	False	Chromosome pair 16	Inferred relationship	Some	1
A partial autosomal monosomy characterized clinically by lethal pulmonary disease that presents as severe respiratory distress and refractory pulmonary hypertension within a few hours after birth and typically results in death from respiratory failure within the first months of life. Characteristic histological features of lung tissue include paucity of alveolar wall capillaries, alveolar wall thickening, muscular hypertrophy of the pulmonary arteries, and malposition of the small pulmonary veins. Various additional congenital malformations may be associated, mostly gastrointestinal (intestinal malrotation and atresias, anular pancreas), genitourinary (dilatation of urinary tracts, duplicated uterus) and cardiovascular anomalies (hypoplastic left heart and other congenital heart defects).	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 16	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 16	Finding site	False	Chromosome pair 16	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 16 (disorder)	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Proximal deletion of long arm of chromosome 16 (disorder)	Finding site	True	Chromosome pair 16	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 16 (disorder)	Finding site	False	Chromosome pair 16	Inferred relationship	Some	3
The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
A rare developmental defect during embryogenesis, a contiguous gene deletion syndrome, is a form of alpha-thalassemia characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Partial deletion of long arm of chromosome 16	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Chromosome 16p11.2 deletion syndrome	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Duplication of part of short arm of chromosome 16 (disorder)	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Proximal 16p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 characterized by developmental delay and intellectual disability of a highly variable degree, autism spectrum, obsessive-compulsive, attention deficit hyperactivity disorder, speech articulation abnormalities, muscular hypotonia, tremor, hyper- or hyporeflexia, seizures, microcephaly, neuroimaging abnormalities, decreased body mass index and schizophrenia or bipolar disorder later on in life.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16p13.3 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from a partial duplication of the short arm of chromosome 16 and manifesting with a variable phenotype which is mostly characterized by: mild to moderate intellectual deficit and developmental delay (particularly speech), normal growth, short, proximally implanted thumbs and other hand and feet malformations (such as camptodactyly, syndactyly, club feet), mild arthrogryposis and characteristic facies (upslanting, narrow palpebral fissures, hypertelorism, mid face hypoplasia, bulbous nasal tip and low set ears). Other reported manifestations include cryptorchidism, inguinal hernia and behavioral problems.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Duplication of part of long arm of chromosome 16 (disorder)	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
A partial deletion of the short arm of chromosome 16 characterized by developmental delay, intellectual disability, speech delay, autism spectrum disorder, epilepsy, hypogonadism, and hypotonia. The behavioral profile includes impulsivity, compulsivity, stubbornness, manipulative behaviors, temper tantrums, and aggressive behaviors.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2
16p12.1p12.3 triplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial triplication of the short arm of chromosome 16 characterized by global developmental delay, pre- or post-natal growth delay and distinctive craniofacial features, including short palpebral fissures, epicanthal folds, bulbous nose, thin upper vermillion border, apparently low-set ears and large ear lobes. Variable clinical features that have been reported include congenital heart disease, genitourinary abnormalities, visual anomalies or, less commonly, infantile hepatic disease. Patients are also reported to have tapered fingers.	Finding site	True	Chromosome pair 16	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
65781018	Chromosome pair 16	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1202987018	Chromosome pair 16 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core