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113354003: Chromosome pair 2 (cell structure)

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
187569010 Chromosome pair 2 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
187569010 Chromosome pair 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
648945010 Chromosome pair 2 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1185726012 Chromosome pair 2 (cell structure) en Fully specified name Active Only initial character 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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 2 (cell structure) Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 2 (cell structure) partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 2 Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p partial trisomy syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 2 Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p partial trisomy syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p partial trisomy syndrome (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 2 Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome 2q37 deletion syndrome Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
2p15p16.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
2p15p16.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
2q23.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
2q23.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
2q24 microdeletion syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
2q24 microdeletion syndrome (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
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. Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
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. Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 2 (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Deletion of part of short arm of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 2 (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 2q (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 2p (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 2 syndrome (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 2, with a highly variable phenotype typically characterized by severe intellectual disability, moderate to severe developmental delay (particularly speech), feeding difficulties, failure to thrive, hypotonia, thin, sparse hair, various dental abnormalities and cleft/high-arched palate. Typical dysmorphic features include high, prominent forehead, down-slanting palpebral fissures and prominent nasal bridge with beaked nose. Various behavioral problems (e.g. hyperactivity, chaotic/repetitive behavior, touch avoidance) are also associated. Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 2 syndrome (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 2 syndrome Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q23.1 microduplication syndrome Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p21 microdeletion syndrome without cystinuria (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
2p21 microdeletion syndrome without cystinuria (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p13.2 microdeletion syndrome Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
2p13.2 microdeletion syndrome Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome 2q37 deletion syndrome Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of long arm of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 2 (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 2 Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial deletion of long arm of chromosome 2 Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 2 Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 2 Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 2 (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 2 (disorder) Finding site False Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 2
2q23.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2q24 microdeletion syndrome (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
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. Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
2p15p16.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 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 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1
Overgrowth syndrome with 2q37 translocation Finding site True Chromosome pair 2 (cell structure) Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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