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89959003: Chromosome pair 19 (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
149116014 Chromosome pair 19 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1205249012 Chromosome pair 19 (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 19 Is a Chromosome true Inferred relationship Some
Chromosome pair 19 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
19q partial trisomy syndrome Finding site False Chromosome pair 19 Inferred relationship Some 1
Anomaly of chromosome pair 19 Finding site False Chromosome pair 19 Inferred relationship Some 1
19q partial trisomy syndrome Finding site False Chromosome pair 19 Inferred relationship Some 1
Anomaly of chromosome pair 19 Finding site False Chromosome pair 19 Inferred relationship Some 1
19q partial trisomy syndrome Finding site True Chromosome pair 19 Inferred relationship Some 1
Anomaly of chromosome pair 19 Finding site True Chromosome pair 19 Inferred relationship Some 1
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site True Chromosome pair 19 Inferred relationship Some 2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site False Chromosome pair 19 Inferred relationship Some 3
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Finding site True Chromosome pair 19 Inferred relationship Some 2
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Finding site False Chromosome pair 19 Inferred relationship Some 3
Deletion of part of chromosome 19 (disorder) Finding site True Chromosome pair 19 Inferred relationship Some 1
Deletion of short arm of chromosome 19 (disorder) Finding site True Chromosome pair 19 Inferred relationship Some 3
Deletion of long arm of chromosome 19 (disorder) Finding site True Chromosome pair 19 Inferred relationship Some 3
Partial trisomy of chromosome 19 Finding site True Chromosome pair 19 Inferred relationship Some 1
Partial trisomy of short arm of chromosome 19 (disorder) Finding site True Chromosome pair 19 Inferred relationship Some 3
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Finding site True Chromosome pair 19 Inferred relationship Some 2
A rare partial autosomal monosomy characterized by global developmental delay, moderate intellectual disability, macrocephaly, overgrowth, hypotonia, and facial dysmorphism (frontal bossing, down-slanting palpebral fissures). Other associated features variably include ataxia, seizures, ventriculomegaly, ocular abnormalities (strabismus, optic nerve hypoplasia) and gastrointestinal problems (abdominal pain, vomiting, constipation). Finding site True Chromosome pair 19 Inferred relationship Some 1
Ring chromosome 19 syndrome is a rare chromosomal anomaly syndrome with a highly variable phenotype that may range from normal to patients with profound intellectual disability, developmental delay, learning disability (especially speech) and mild dysmorphism (including micro/macrocephaly, prominent forehead, low-set and posteriorly rotated ears, hypertelorism, high nasal bridge, prominent philtrum, retro/micrognathia). Mild hypotonia and autistic-like mannerisms (e.g. hand opening and closing, head banging) may also be associated. Other anomalies, such as cutis laxa, hearing loss, syndactyly, digital hypoplasia, and talipes equinovarus, have also been reported. Finding site True Chromosome pair 19 Inferred relationship Some 1
Distal trisomy 19q is a rare chromosomal anomaly syndrome characterized by low birth weight, developmental delay, intellectual disability, short stature, craniofacial dysmorphism (including microcephaly, midface hypoplasia, hypertelorism, flat nasal bridge, ear anomalies, short philtrum, downturned corners of the mouth, micrognathia) and a short neck with redundant skin folds. Additional features may include hypotonia, skeletal anomalies (e.g. clino/camptodactyly), seizures and congenital cardiac, urogenital and gastrointestinal malformations. Finding site True Chromosome pair 19 Inferred relationship Some 1
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). Finding site True Chromosome pair 19 Inferred relationship Some 1
Deletion of long arm of chromosome 19 (disorder) Finding site True Chromosome pair 19 Inferred relationship Some 2
Deletion of short arm of chromosome 19 (disorder) Finding site True Chromosome pair 19 Inferred relationship Some 2
19p13.12 microdeletion syndrome is a newly described syndrome characterized by moderate to severe developmental delay, language delay, bilateral sensorineural and/or conductive hearing loss and facial dysmorphism. Finding site True Chromosome pair 19 Inferred relationship Some 1
The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails. Finding site True Chromosome pair 19 Inferred relationship Some 1
Distal monosomy 19p13.3 is a rare chromosomal anomaly associated with a wide range of phenotypic features depending on the size of the deletion. It may present with intrauterine growth retardation, failure to thrive, global developmental delay, dysmorphic features (such as broad forehead, midface retrusion, broad nasal bridge, micrognathia, smooth philtrum, low-set, dysplastic ears), congenital anomalies (such as atrial septal defect, gastrointestinal anomalies, renal and urogenital malformations, agenesis of the corpus callosum) and other clinical features (such as hearing loss, visual impairment and immune dysregulation). Finding site True Chromosome pair 19 Inferred relationship Some 2
A rare, genetic, syndromic intellectual disability characterized by intrauterine growth retardation, microcephaly, hypotonia, motor and neurodevelopmental delay, speech delay, intellectual disability, and mild dysmorphic features. Finding site True Chromosome pair 19 Inferred relationship Some 2

This concept is not in any reference sets

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