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113355002: Chromosome pair 3 (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
187570011 Chromosome pair 3 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1185727015 Chromosome pair 3 (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 3 Is a Chromosome true Inferred relationship Some
Chromosome pair 3 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Anomaly of chromosome pair 3 Finding site False Chromosome pair 3 Inferred relationship Some 1
3p partial trisomy syndrome Finding site False Chromosome pair 3 Inferred relationship Some 1
3q partial trisomy syndrome Finding site False Chromosome pair 3 Inferred relationship Some 1
Anomaly of chromosome pair 3 Finding site False Chromosome pair 3 Inferred relationship Some 1
3q partial trisomy syndrome Finding site False Chromosome pair 3 Inferred relationship Some 1
3p partial trisomy syndrome Finding site False Chromosome pair 3 Inferred relationship Some 1
3p partial trisomy syndrome Finding site True Chromosome pair 3 Inferred relationship Some 1
Anomaly of chromosome pair 3 Finding site True Chromosome pair 3 Inferred relationship Some 1
3q partial trisomy syndrome Finding site True Chromosome pair 3 Inferred relationship Some 1
3p partial monosomy syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 1
3p partial monosomy syndrome (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 2
3q29 microduplications are recently described chromosomal abnormalities with unclear clinical significance. Finding site True Chromosome pair 3 Inferred relationship Some 1
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site False Chromosome pair 3 Inferred relationship Some 2
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site False Chromosome pair 3 Inferred relationship Some 3
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Finding site False Chromosome pair 3 Inferred relationship Some 2
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Finding site False Chromosome pair 3 Inferred relationship Some 3
Deletion of part of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 1
Deletion of part of long arm of chromosome 3 (disorder) Finding site False Chromosome pair 3 Inferred relationship Some 2
Deletion of part of long arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 3
Partial trisomy of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Some 1
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Finding site True Chromosome pair 3 Inferred relationship Some 2
Distal trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (including brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent cheeks and philtrum, downturned corners of mouth, micrognathia/retrognathia, short neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers. Finding site True Chromosome pair 3 Inferred relationship Some 1
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Finding site True Chromosome pair 3 Inferred relationship Some 2
Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism (e.g. long facies, prominent eyes, dysplastic ears, downturned corners of the mouth, micrognathia) and no developmental delays to more severe phenotypes including short stature, intellectual disability, severe developmental delays, additional craniofacial dysmorphic features (e.g. brachycephaly, high forehead, flat midface, short neck) and hearing impairment, as well as skeletal (e.g. pectus excavatum, scoliosis), ocular (e.g. coloboma) and cardiac abnormalities. Finding site True Chromosome pair 3 Inferred relationship Some 1
Distal monosomy 3p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 3, with a highly variable phenotype typically characterized by pre- and post-natal growth retardation, intellectual disability, developmental delay and craniofacial dysmorphism (microcephaly, trigonocephaly, downslanting palpebral fissures, telecanthus, ptosis, micrognathia). Postaxial polydactyly, hypotonia, renal anomalies and congenital heart defects (e.g. atrioventricular septal defect) may be associated. Finding site True Chromosome pair 3 Inferred relationship Some 1
Ring chromosome 3 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype principally characterized by pre- and postnatal growth retardation, short stature, developmental delay, mild to severe intellectual disability, microcephaly and mild dysmorphic features (including triangular face, dysplastic ears, upslanting palpebral fissures, epicanthic folds, broad nasal bridge, full nasal tip, long philtrum, downturned corners of the mouth, and micro/retrognathia). Additional manifestations reported include hypotonia, mild articular limitation, hearing loss, digital anomalies (i.e. clinodactyly, brachydactyly), café-au-lait patches and hypospadias. Finding site True Chromosome pair 3 Inferred relationship Some 1
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Finding site False Chromosome pair 3 Inferred relationship Some 3
3q27.3 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (including slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus. Finding site True Chromosome pair 3 Inferred relationship Some 1
A rare chromosomal anomaly characterized by prenatal and postnatal growth retardation, developmental delay, intellectual impairment, dysmorphic signs and variable combination of congenital anomalies, including cardiovascular, genitourinary and skeletal anomalies and spectrum of caudal malformations. Finding site True Chromosome pair 3 Inferred relationship Some 2
A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. Finding site False Chromosome pair 3 Inferred relationship Some 2
A rare partial autosomal microdeletion syndrome characterized by neonatal hypotonia, prenatal and postnatal growth deficiency, severe feeding difficulties, global developmental delay and intellectual disability, dental anomalies (delayed tooth eruption, delayed loss of primary teeth, dental crowding), recurrent respiratory infections, thrombocytopenia and facial dysmorphism (flat facial profile, medially sparse eyebrows, epicanthal folds, flat nasal bridge and tip, short philtrum). Behavioral abnormalities (ADHD, Asperger syndrome) have also been reported. Finding site True Chromosome pair 3 Inferred relationship Some 1
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Finding site True Chromosome pair 3 Inferred relationship Some 1
3p25.3 microdeletion syndrome is a rare chromosomal anomaly characterized by intellectual disability, epilepsy or EEG abnormalities, poor speech, ataxia, and stereotypic hand movements. Finding site True Chromosome pair 3 Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Finding site True Chromosome pair 3 Inferred relationship Some 2
A rare disorder of the ocular adnexa characterized by an extended phenotype of blepharophimosis, ptosis, epicanthus inversus and telecanthus syndrome (BPES). When BPES is caused by a microdeletion encompassing other genes in addition to the causative gene FOXL2, the patient has additional features including intellectual disability, external genital anomaly, spastic diplegia, and speech delay. Acquired microcephaly can also be observed. Finding site False Chromosome pair 3 Inferred relationship Some 4
Distal deletion of long arm of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Some 1
Distal deletion of long arm of chromosome 3 Finding site False Chromosome pair 3 Inferred relationship Some 2
Distal trisomy 3q (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 1
Distal deletion of short arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 2
Proximal duplication of long arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 1
Proximal duplication of short arm of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 3 (disorder) Finding site True Chromosome pair 3 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 3 (disorder) Finding site False Chromosome pair 3 Inferred relationship Some 2
Proximal deletion of short arm of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Some 1
Proximal deletion of short arm of chromosome 3 Finding site True Chromosome pair 3 Inferred relationship Some 3
A recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features. Finding site True Chromosome pair 3 Inferred relationship Some 1
3q13 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 3. Phenotype can be highly variable, but it is primarily characterized by significant developmental delay, postnatal growth above the mean, muscular hypotonia and distinctive facial features (such as broad and prominent forehead, hypertelorism, epicanthic folds, ptosis, short philtrum, protruding lips with a full lower lip, high arched palate). Abnormal hypoplastic male genitalia and skeletal abnormalities are frequently present. Finding site True Chromosome pair 3 Inferred relationship Some 1

This concept is not in any reference sets

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