32299009: Anomaly of chromosome pair 2 (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Fetal and/or neonatal disorder\Congenital disease\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2

\Chromosomal disorder (disorder)\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 2

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

53956010 Anomaly of chromosome pair 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

763565016 Anomaly of chromosome pair 2 (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

900601000172112 anomalie du chromosome 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Anomaly of chromosome pair 2	Is a	Anomaly of sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Finding site	Sex chromosome	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Occurrence	Congenital	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Is a	Anomaly of chromosome pair	true	Inferred relationship	Some
Anomaly of chromosome pair 2	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2	false	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	anomalie congénitale	false	Inferred relationship	Some
Anomaly of chromosome pair 2	Occurrence	Congenital	true	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Some	1
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2p partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
Chromosome 2q37 deletion syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
2p15p16.1 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
The 2p21 microdeletion syndrome consists of cystinuria, neonatal seizures, hypotonia, severe growth and developmental delay, facial dysmorphism, and lactic acidemia.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Some
Deletion of part of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
Partial trisomy of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
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).	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some
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.	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Some

This concept is not in any reference sets