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16312006: Chromosome pair 11 (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
27619017 Chromosome pair 11 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1186607016 Chromosome pair 11 (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 11 (cell structure) Is a Chromosome true Inferred relationship Some
Chromosome pair 11 (cell structure) partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
11p partial trisomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
11p partial monosomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 3
11q partial monosomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
11q partial trisomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Anomaly of chromosome pair 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 3
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 3
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
11p partial monosomy syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
11q partial trisomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
11p partial trisomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Anomaly of chromosome pair 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
11q partial monosomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
11q partial trisomy syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Café-au-lait spots and ring chromosome 11 Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 1
Anomaly of chromosome pair 11 Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
11p partial trisomy syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
11p partial monosomy syndrome Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
11q partial monosomy syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 6
11q partial monosomy syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 3
Deletion of part of chromosome 11 (disorder) Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Partial trisomy of chromosome 11 (disorder) Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Distal trisomy 11q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 11, with high phenotypic variability principally characterized by craniofacial dysmorphism (brachycephaly/plagiocephaly, low-set, posteriorly rotated ears, short philtrum, micrognathia) and intellectual disability. Short stature and seizures, as well as cardiac (e.g. atrial septal defect), skeletal (including brachy/syndactyly) and genital (e.g. micropenis, cryptorchidism) abnormalities may also be associated. Neurodevelopmental anomalies (pain insensitivity, sensorineural hearing loss, expressive language deficiency) and neuropsychiatric disorders (autistic features, auditory hallucination, self-talking) have also been reported. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Microtriplication 11q24.1 is an extremely rare partial autosomal tetrasomy, resulting from a partial triplication of the long arm of chromosome 11, characterized by intellectual disability (with severe verbal impairment), short stature with small extremities, keratoconus and distinctive facial features (round, course face, upward slanting palpebral fissures, mild synophrys, large nose with thick ala nasi and triangular tip, large mouth with broad lips, short and smooth philtrum, large protruded chin, ears with adherent lobules). Additionally, patients are overweight and present hypercholesterolemia. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
A contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphthalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Finding site False Chromosome pair 11 (cell structure) Inferred relationship Some 2
11p partial monosomy syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare genetic disorder characterized by the association of complete or partial congenital aniridia (and associated eyes abnormalities), genitourinary anomalies (ranging from sexual ambiguity to ectopic testis), variable degrees of intellectual disability and an increased risk of developing Wilms tumors. A minority of patients develop kidney failure. Other variable findings may include obesity and duplicated halluces. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
11p15 deletion syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
11p15 deletion syndrome Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
11p15 duplication syndrome (disorder) Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Maternal uniparental disomy of chromosome 11 Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Paternal uniparental disomy of chromosome 11 Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Proximal duplication of long arm of chromosome 11 Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 11 (disorder) Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
Proximal deletion of long arm of chromosome 11 (disorder) Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 2
A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 1
A rare chromosomal anomaly characterized by mild intellectual disability, developmental delay, short stature, hypotonia and dysmorphic facial features. Anxiety and short attention span have also been reported. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 3
A rare partial autosomal monosomy characterised by global developmental delay, intellectual disability, multiple cartilaginous exostoses, and craniofacial anomalies (such as brachycephaly, biparietal foramina, large fontanels, craniosynostosis, ptosis, epicanthic folds, prominent nasal bridge with broad, depressed nasal tip, hypoplastic nares, short philtrum, downturned upper lip, and micrognathia). Additional reported features include behavioural abnormalities, myopia, strabismus, and sensorineural hearing loss, among others. Finding site True Chromosome pair 11 (cell structure) Inferred relationship Some 4

This concept is not in any reference sets

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