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17897000: Chromosome pair 12 (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
30242013 Chromosome pair 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1186702018 Chromosome pair 12 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
30242013 Chromosome pair 12 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
30242013 Chromosome pair 12 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
745252019 Chromosome pair 12 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1186702018 Chromosome pair 12 (cell structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1186702018 Chromosome pair 12 (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 12 Is a Chromosome true Inferred relationship Existential restriction modifier (core metadata concept)
Chromosome pair 12 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
12p partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 12 Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 12p syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 12p syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 12 Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial trisomy syndrome Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q partial trisomy syndrome Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 12 Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 12p syndrome (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
Ulnar mammary syndrome Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q14 microdeletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 4
12q14 microdeletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 5
Deletion of part of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of part of long arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of long arm of chromosome 12 (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q15q21.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
12q15q21.1 microdeletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 3
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported. Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 12 syndrome Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal monosomy characterised by language development delay with childhood apraxia of speech, mild intellectual disability, behaviorial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly. Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q14 microdeletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
12q14 microdeletion syndrome (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-distal monosomy 12q (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal monosomy 12q (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
12q15 deletion syndrome (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q15 deletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
12q24.31-q24.32 deletion syndrome Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
12q24.31-q24.32 deletion syndrome Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
12q15q21.1 microdeletion syndrome (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal deletion of long arm of chromosome 12 (disorder) Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 12q (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 12 Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 12 Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of long arm of chromosome 12 Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of short arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare chromosomal anomaly syndrome resulting from the partial deletion of the short arm of chromosome 12. The disorder has characteristics of intellectual disability, global developmental delay with prominent language impairment, behavioural abnormalities and mild facial dysmorphism (including frontal bossing, downslanting palpebral fissures, epicanthal folds, broad, depressed nasal bridge with bulbous nasal tip, low-set ears with underdeveloped helices). Other associated features may include skeletal abnormalities (butterfly vertebrae, scoliosis), strabismus, optic nerve hypoplasia and brain malformations. Finding site False Chromosome pair 12 Inferred relationship Existential restriction modifier (core metadata concept) 1

This concept is not in any reference sets

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