32299009: Anomaly of chromosome pair 2 (disorder)

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

\Disorder of foetus and/or newborn\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

53956010 Anomaly of chromosome pair 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

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 Only initial character 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

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	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2	Finding site	Sex chromosome	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 2	Associated morphology	Alteration of chromosome structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2	Is a	Anomaly of chromosome pair	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2 (cell structure)	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 2	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Anomaly of chromosome pair 2	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 2	Associated morphology	Cellular AND/OR subcellular abnormality	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Anomaly of chromosome pair 2	Finding site	Chromosome pair 2 (cell structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
2p partial trisomy syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
2q partial trisomy syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Chromosome 2q37 deletion syndrome	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
2p15p16.1 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
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	Existential restriction modifier (core metadata concept)
2q23.1 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
2q24 microdeletion syndrome (disorder)	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
A rare autosomal monosomy characterised by a variable phenotype with moderate to severe intellectual disability, behavioural problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.	Is a	False	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Deletion of part of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Partial trisomy of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Mosaic trisomy 2 syndrome (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Ring chromosome 2 syndrome	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Maternal uniparental disomy of chromosome 2 (disorder)	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)
Overgrowth syndrome with 2q37 translocation	Is a	True	Anomaly of chromosome pair 2	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets