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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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 12 Is a Chromosome true Inferred relationship Some
Chromosome pair 12 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
12p partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
Anomaly of chromosome pair 12 Finding site False Chromosome pair 12 Inferred relationship Some 1
12q partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Some 1
12p partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Some 1
12q partial trisomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
Anomaly of chromosome pair 12 Finding site False Chromosome pair 12 Inferred relationship Some 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
12p partial trisomy syndrome Finding site True Chromosome pair 12 Inferred relationship Some 1
12q partial trisomy syndrome Finding site True Chromosome pair 12 Inferred relationship Some 1
Anomaly of chromosome pair 12 Finding site True Chromosome pair 12 Inferred relationship Some 1
Tetrasomy 12p syndrome (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 1
12p partial monosomy syndrome Finding site False Chromosome pair 12 Inferred relationship Some 2
An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. Finding site True Chromosome pair 12 Inferred relationship Some 1
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Finding site False Chromosome pair 12 Inferred relationship Some 4
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Finding site False Chromosome pair 12 Inferred relationship Some 5
Deletion of part of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
Deletion of part of long arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 2
Deletion of part of long arm of chromosome 12 (disorder) Finding site False Chromosome pair 12 Inferred relationship Some 3
Partial trisomy of chromosome 12 Finding site True Chromosome pair 12 Inferred relationship Some 1
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Finding site False Chromosome pair 12 Inferred relationship Some 2
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Finding site False Chromosome pair 12 Inferred relationship Some 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 Some 2
Trisomy 12 Finding site True Chromosome pair 12 Inferred relationship Some 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 Some 1
Ring chromosome 12 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by postnatal growth retardation, variable degrees of developmental delay and intellectual disability, microcephaly and facial dysmorphism (including epicanthal folds, low-set, cupped ears, prominent nose with flat nasal bridge, high arched palate, micrognathia). Skeletal abnormalities (e.g. pectus excavatum, clinodactyly), congenital heart malformations, cryptorchidism, café-au-lait spots and epilepsy have also been reported. Finding site True Chromosome pair 12 Inferred relationship Some 1
A rare partial autosomal monosomy characterized 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 Some 1
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Finding site False Chromosome pair 12 Inferred relationship Some 2
12q14 microdeletion syndrome is characterized by mild intellectual deficit, failure to thrive, short stature and osteopoikilosis. It has been described in four unrelated patients. The syndrome appears to be caused by a heterozygous deletion at chromosome region 12q14, which was detected in three of the four patients. The deleted region contains the LEMD3 gene: mutations in this gene have already been implicated in osteopoikilosis. Finding site True Chromosome pair 12 Inferred relationship Some 1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by 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 Some 2
A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. Finding site True Chromosome pair 12 Inferred relationship Some 1
A partial autosomal monosomy characterized by variable combination of developmental delay, intellectual disability, ectodermal, genitourinary and minor cardiac anomalies, and specific dysmorphic features (prominent forehead and low-set ears). Specific combination depends on the size and breakpoints of deleted regions. Finding site False Chromosome pair 12 Inferred relationship Some 2
12q15 deletion syndrome (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
12q15 deletion syndrome (disorder) Finding site False Chromosome pair 12 Inferred relationship Some 2
12q24.31-q24.32 deletion syndrome Finding site True Chromosome pair 12 Inferred relationship Some 1
12q24.31-q24.32 deletion syndrome Finding site False Chromosome pair 12 Inferred relationship Some 2
12q15q21.1 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 12, with a highly variable phenotype, typically characterized by developmental delay, learning disability, intra-uterine and postnatal growth retardation, and mild facial dysmorphism that changes with age. Nasal speech and hypothyroidism are also associated. Finding site True Chromosome pair 12 Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
Distal deletion of long arm of chromosome 12 (disorder) Finding site False Chromosome pair 12 Inferred relationship Some 2
Distal trisomy 12q (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
Proximal duplication of long arm of chromosome 12 Finding site True Chromosome pair 12 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 12 (disorder) Finding site False Chromosome pair 12 Inferred relationship Some 2
Deletion of part of short arm of chromosome 12 (disorder) Finding site True Chromosome pair 12 Inferred relationship Some 1
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 12, characterised by 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 Some 1

This concept is not in any reference sets

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