113354003: Chromosome pair 2 (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 2

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

187569010 Chromosome pair 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

1185726012 Chromosome pair 2 (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 2	Is a	Chromosome	true	Inferred relationship	Some
Chromosome pair 2	partie de	Nucleus	false	Additional relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Anomaly of chromosome pair 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
2p partial trisomy syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q partial trisomy syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
Deletion of part of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
Deletion of part of long arm of chromosome 2 (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
Deletion of part of short arm of chromosome 2 (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	3
Partial trisomy of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q33.1 microdeletion syndrome (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Distal trisomy 2p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 2, with a highly variable phenotype principally characterized by pre- and post-natal growth failure, global developmental delay, facial dysmorphism (including high forehead/frontal bossing, abnormal ear shape and/or position, hypertelorism/telecanthus, broad/depressed nasal bridge) and ocular anomalies (e.g. exophthalmos, retinal hypopigmentation, optic nerve and foveal hypoplasia). Other reported anomalies include generalized hypotonia, pectus excavatum, long fingers and toes, syndactyly, congenital heart (e.g. ventricular and atrial septal defects) and neural tube defects, seizures, pulmonary hypoplasia, diaphragmatic hernia and urogenital anomalies.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
2q33.1 microdeletion syndrome (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Ring chromosome 2 syndrome is a rare chromosomal anomaly syndrome with highly variable phenotype principally characterised by intrauterine growth retardation, failure to thrive, developmental delay, hypotonia, mild dysmorphic features (including microcephaly, short forehead, upslanting palpebral fissures, hypertelorism, epicanthal folds, wide nasal bridge, broad nasal tip, long philtrum, thin upper lip, micrognathia, short neck), skeletal anomalies (e.g. kyphosis, brachydactyly, clinodactyly, talipes equinovarus) and dermatological features (i.e. café-au-lait spots). Patients may also present ventriculoseptal defects and genital abnormalities (e.g. genital hypoplasia, phimosis, cryptorchidism).	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Maternal uniparental disomy of chromosome 2 is an uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
2p21 microdeletion syndrome without cystinuria is a rare partial autosomal monosomy characterized by weak fetal movements, severe infantile hypotonia and feeding difficulties that spontaneously improve with time, urogenital abnormalities (hypospadias or hypoplastic labia majora), global development delay, mild intellectual disability and facial dysmorphism (dolichocephaly, frontal bossing, bilateral ptosis, midface retrusion, open mouth with tented upper lip vermilion). Affected individuals have borderline elevated serum lactate but no cystinuria.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	2
A rare partial autosomal monosomy characterized by global development delay, intellectual disability, behavioral abnormalities (hyperactivity, attention deficit and autistic behaviors), brachycephaly and variable facial dysmorphism. Other associated features may include vertebral fusions, mild contractures of knees and elbows, and feeding difficulties during infancy.	Finding site	False	Chromosome pair 2	Inferred relationship	Some	1
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Chromosome 2q37 deletion syndrome	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Distal deletion of long arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Distal deletion of long arm of chromosome 2 (disorder)	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Medial duplication of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Medial deletion of long arm of chromosome 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
Proximal duplication of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Proximal duplication of short arm of chromosome 2 (disorder)	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
Proximal deletion of long arm of chromosome 2	Finding site	False	Chromosome pair 2	Inferred relationship	Some	2
The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q24 microdeletion syndrome is a chromosomal anomaly consisting of a partial long arm deletion of chromosome 2 and characterized clinically by a wide range of manifestations (depending on the specific region deleted) which can include seizures, microcephaly, dysmorphic features, cleft palate, eye abnormalities (coloboma, cataract and microphthalmia), growth retardation, failure to thrive, heart defects, limb anomalies, developmental delay and autism.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2q31.1 microdeletion syndrome is a well-defined and clinically recognisable syndrome characterized by moderate to severe developmental delay, short stature, facial dysmorphism and variable limb defects.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1
A rare overgrowth syndrome with skeletal involvement characterized by long and slim body habitus and multiple skeletal manifestations, such as scoliosis, macrodactyly of the big toes, arachnodactyly of fingers and toes, camptodactyly and clinodactyly, and progressive valgus deformities of the feet. Epimetaphyseal dysplasia, bowing of the tibiae, and dysmorphic facial features (hypertelorism, high palate, or micrognathia), as well as aortic root dilatation and umbilical hernia have also been reported.	Finding site	True	Chromosome pair 2	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
187569010	Chromosome pair 2	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1185726012	Chromosome pair 2 (cell structure)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core