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55401003: Chromosome pair 13 (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
92104016 Chromosome pair 13 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203692013 Chromosome pair 13 (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 13 Is a Chromosome true Inferred relationship Some
Chromosome pair 13 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 1
Partial trisomy 13 in Patau's syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Anomaly of chromosome pair 13 Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
13p partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome (disorder) Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Aplasia cutis in Trisomy 13 syndrome (disorder) Finding site False Chromosome pair 13 Inferred relationship Some 3
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site True Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 1
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 2
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 1
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 2
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 2
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 2
Patau's syndrome NOS Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
Complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 13 Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 2
Trisomy 13, meiotic nondisjunction Finding site False Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 2
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
13p partial trisomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Anomaly of chromosome pair 13 Finding site False Chromosome pair 13 Inferred relationship Some 1
Partial trisomy 13 in Patau's syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Partial trisomy 13 in Patau's syndrome Finding site True Chromosome pair 13 Inferred relationship Some 1
Anomaly of chromosome pair 13 Finding site True Chromosome pair 13 Inferred relationship Some 1
13q partial trisomy syndrome Finding site True Chromosome pair 13 Inferred relationship Some 1
13q partial monosomy syndrome Finding site False Chromosome pair 13 Inferred relationship Some 1
Complete trisomy 13 syndrome Finding site True Chromosome pair 13 Inferred relationship Some 1
13p partial trisomy syndrome Finding site True Chromosome pair 13 Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Finding site True Chromosome pair 13 Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Finding site True Chromosome pair 13 Inferred relationship Some 1
Fetal complete trisomy 13 syndrome Finding site False Chromosome pair 13 Inferred relationship Some 3
13q partial monosomy syndrome Finding site True Chromosome pair 13 Inferred relationship Some 2
A rare chromosomal anomaly of chromosome 13 characterized by a widely variable phenotype (ranging from mild to severe) principally characterized by intrauterine growth retardation, developmental delay, short stature, moderate to severe intellectual deficit, microcephaly, facial dysmorphism (i.e. upslanting palpebral fissures, hypertelorism, abnormal ears, broad nasal bridge, high arched palate, micrognathia, small mouth, and thin lips), hands and feet anomalies, and genital abnormalities. Additional features reported include behavioral problems, hearing and speech disorders, congenital heart defects, cerebral malformations, and anal atresia. Finding site True Chromosome pair 13 Inferred relationship Some 1
Deletion of part of chromosome 13 (disorder) Finding site True Chromosome pair 13 Inferred relationship Some 1
Partial trisomy of chromosome 13 Finding site True Chromosome pair 13 Inferred relationship Some 1
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. Finding site True Chromosome pair 13 Inferred relationship Some 2
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (including microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. Finding site True Chromosome pair 13 Inferred relationship Some 1
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. Finding site True Chromosome pair 13 Inferred relationship Some 1
Distal monosomy 13q is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, with a highly variable phenotype typically characterized by varying degrees of intellectual disability and developmental delay, as well as CNS malformations (e.g. holoprosencephaly, anencephaly, ventriculomegaly, Dandy-Walker malformation), ocular abnormalities (e.g. hypertelorism, microphthalmia, strabismus, aniridia, retinal dysplasia) and craniofacial dysmorphism (microcephaly, trigonocephaly, large and malformed ears, broad prominent nasal bridge, micrognathia). Cardiac, genitourinary, gastrointestinal and skeletal manifestations have also been reported. Finding site False Chromosome pair 13 Inferred relationship Some 1
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. Finding site False Chromosome pair 13 Inferred relationship Some 1
Monosomy 13q34 is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 13, principally characterized by global developmental delay, mild intellectual disability, obesity and mild craniofacial dysmorphism (microcephaly, wide rectangular forehead, downslanting palpebral fissures, mild ptosis, prominent nose with long nasal bridge and broad tip, small chin). Other variable reported features include congenital heart defects, hand and foot anomalies (e.g. polydactyly) and agenesis of the corpus callosum. Finding site True Chromosome pair 13 Inferred relationship Some 2
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. Finding site False Chromosome pair 13 Inferred relationship Some 1
Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (including micro/dolichocephaly, high and broad forehead, prominent eyebrows, thick, anteverted ear lobes, short nose with a broad nasal bridge and bulbous tip, prominent philtrum, large mouth with thin upper lip and thick, everted lower lip). Other features reported include high birth weight, macrocephaly, pinealoma, hepatomegaly, inguinal hernia and cryptorchidism. Finding site True Chromosome pair 13 Inferred relationship Some 2
Paternal uniparental disomy of chromosome 13 is an uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Finding site True Chromosome pair 13 Inferred relationship Some 1

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