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13526007: Chromosome pair 9 (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
23099016 Chromosome pair 9 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1186388015 Chromosome pair 9 (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 9 Is a Chromosome true Inferred relationship Some
Chromosome pair 9 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
9q partial trisomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9q partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
Anomaly of chromosome pair 9 Finding site False Chromosome pair 9 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
Partial tetrasomy of chromosome 9 (disorder) Finding site False Chromosome pair 9 Inferred relationship Some 1
Complete trisomy 9 syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial trisomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9q partial trisomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
Partial tetrasomy of chromosome 9 (disorder) Finding site False Chromosome pair 9 Inferred relationship Some 1
Anomaly of chromosome pair 9 Finding site False Chromosome pair 9 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Finding site False Chromosome pair 9 Inferred relationship Some 1
9q partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
Complete trisomy 9 syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
9p partial trisomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
Complete trisomy 9 syndrome Finding site True Chromosome pair 9 Inferred relationship Some 1
Partial tetrasomy of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
9q partial trisomy syndrome Finding site True Chromosome pair 9 Inferred relationship Some 1
9p partial trisomy syndrome Finding site True Chromosome pair 9 Inferred relationship Some 1
9q partial monosomy syndrome Finding site True Chromosome pair 9 Inferred relationship Some 1
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
Anomaly of chromosome pair 9 Finding site True Chromosome pair 9 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. Finding site True Chromosome pair 9 Inferred relationship Some 1
9q partial monosomy syndrome Finding site True Chromosome pair 9 Inferred relationship Some 2
9p partial monosomy syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9q22.3 deletion syndrome Finding site False Chromosome pair 9 Inferred relationship Some 2
9q22.3 deletion syndrome Finding site False Chromosome pair 9 Inferred relationship Some 3
Tetrasomy of short arm of chromosome 9 (disorder) Finding site False Chromosome pair 9 Inferred relationship Some 2
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. Finding site True Chromosome pair 9 Inferred relationship Some 2
Interstitial 9q22.3 microdeletion is associated with a phenotype including macrocephaly, overgrowth and trigonocephaly. Psychomotor delay, hyperactivity and distinctive facial features were also observed. It has been described in two unrelated children. Finding site True Chromosome pair 9 Inferred relationship Some 3
Deletion of part of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Partial trisomy of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. Finding site True Chromosome pair 9 Inferred relationship Some 2
Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (including micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (including arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. Finding site True Chromosome pair 9 Inferred relationship Some 1
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). Finding site True Chromosome pair 9 Inferred relationship Some 2
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. Finding site True Chromosome pair 9 Inferred relationship Some 2
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. Finding site True Chromosome pair 9 Inferred relationship Some 1
Mosaic trisomy 9 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intellectual disability, growth and developmental delay, facial dysmorphism (including microphthalmia, deep-set eyes, low-set, malformed ears, bulbous nose, high-arched palate, micrognathia) and congenital heart defects (e.g. ventricular septal defect), as well as urogenital (e.g. hypoplastic genitalia, cryptorchidism), skeletal (congenital joint dislocations or hyperflexion, scoliosis/kyphosis) and central nervous system anomalies (hydrocephalus, Dandy-Walker malformation). Pigmentary mosaic skin lesions along the lines of Blaschko are also frequently observed. Finding site True Chromosome pair 9 Inferred relationship Some 1
9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicanthic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia). Finding site True Chromosome pair 9 Inferred relationship Some 1
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma. Finding site True Chromosome pair 9 Inferred relationship Some 1
Trisomy 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Maternal uniparental disomy of chromosome 9 is a uniparental disomy of maternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only mother is a carrier. Finding site True Chromosome pair 9 Inferred relationship Some 1
9q22.3 deletion syndrome Finding site False Chromosome pair 9 Inferred relationship Some 1
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Finding site True Chromosome pair 9 Inferred relationship Some 1
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis. Finding site True Chromosome pair 9 Inferred relationship Some 2
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. Finding site True Chromosome pair 9 Inferred relationship Some 2
9q31.1q31.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, short stature with high body mass index, short neck with cervical gibbus and dysmorphic facial features. A metabolic syndrome, including type 2 diabetes, hypercholesterolemia and hypertension has also been reported. Finding site True Chromosome pair 9 Inferred relationship Some 3
9p24.3 deletion syndrome (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
9p24.3 deletion syndrome (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 2
9q34 deletion syndrome (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
9q34 deletion syndrome (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 2
Distal deletion of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Distal deletion of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 2
Distal trisomy 9p (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Medial deletion of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Medial deletion of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 3
Medial duplication of long arm of chromosome 9 Finding site True Chromosome pair 9 Inferred relationship Some 1
Proximal duplication of short arm of chromosome 9 Finding site True Chromosome pair 9 Inferred relationship Some 1
Proximal duplication of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 3
Proximal deletion of short arm of chromosome 9 Finding site True Chromosome pair 9 Inferred relationship Some 1
Proximal deletion of short arm of chromosome 9 Finding site True Chromosome pair 9 Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) Finding site True Chromosome pair 9 Inferred relationship Some 1
A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. Finding site True Chromosome pair 9 Inferred relationship Some 1
A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias. Finding site True Chromosome pair 9 Inferred relationship Some 3
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. Finding site True Chromosome pair 9 Inferred relationship Some 1
A rare, genetic, intellectual disability malformation syndrome characterized by global developmental delay, intellectual disability, delayed speech and language development, epilepsy, autistic behavior, and moderate facial dysmorphism (including elongated face, narrow forehead, arched eyebrows, horizontal palpebral fissures, hypertelorism, epicanthus, midface flattening, short nose, long and featureless philtrum, thin upper lip, macrostomia, and prominent chin). Additional variable manifestations include microcephaly, hypotonia, hypertrichosis, and strabismus. Finding site True Chromosome pair 9 Inferred relationship Some 4

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