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11698001: Chromosome pair 18 (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
20208011 Chromosome pair 18 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1185886016 Chromosome pair 18 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2611231000005110 Kromosompar nr. 18 da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 18 Is a Chromosome true Inferred relationship Some
Chromosome pair 18 del af Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 1
Partial trisomy 18 in Edward's syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
18p partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
18q partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
18p partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Anomaly of chromosome pair 18 Finding site False Chromosome pair 18 Inferred relationship Some 1
18q partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 2
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 2
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 2
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 2
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site True Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 1
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 2
Edwards syndrom, ikke nærmere specificeret Finding site False Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 2
Complete trisomy 18 syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site False Chromosome pair 18 Inferred relationship Some 2
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - meiotic nondisjunction Finding site False Chromosome pair 18 Inferred relationship Some 2
18q partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
Anomaly of chromosome pair 18 Finding site False Chromosome pair 18 Inferred relationship Some 1
Partial trisomy 18 in Edward's syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site False Chromosome pair 18 Inferred relationship Some 1
18p partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
18q partial trisomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
18p partial monosomy syndrome Finding site False Chromosome pair 18 Inferred relationship Some 1
18p partial trisomy syndrome Finding site True Chromosome pair 18 Inferred relationship Some 1
Complete trisomy 18 syndrome Finding site True Chromosome pair 18 Inferred relationship Some 1
Partial trisomy 18 in Edward's syndrome Finding site True Chromosome pair 18 Inferred relationship Some 1
18q partial trisomy syndrome Finding site True Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Finding site True Chromosome pair 18 Inferred relationship Some 1
Trisomy 18 - meiotic nondisjunction Finding site True Chromosome pair 18 Inferred relationship Some 1
18q partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including hypotonia, neonatal feeding and respiratory difficulties, microcephaly, global developmental delay and intellectual disability, growth hormone deficiency, hypothyroidism, hearing loss, aural atresia, dysmorphic facial features and behavioral characteristics. Finding site True Chromosome pair 18 Inferred relationship Some 1
Anomaly of chromosome pair 18 Finding site True Chromosome pair 18 Inferred relationship Some 1
Tetrasomy 18p Finding site True Chromosome pair 18 Inferred relationship Some 1
18p partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Some 1
Fetus with complete trisomy 18 syndrome (disorder) Finding site False Chromosome pair 18 Inferred relationship Some 3
18q partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Some 2
18p partial monosomy syndrome Finding site True Chromosome pair 18 Inferred relationship Some 2
Deletion of part of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Some 1
Partial trisomy of chromosome 18 (disorder) Finding site True Chromosome pair 18 Inferred relationship Some 1
A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. Finding site True Chromosome pair 18 Inferred relationship Some 2
A chromosomal condition occurring when a piece of the long (q) arm of chromosome 18 is missing near the centre of the chromosome. The disease has a wide range of characteristics including developmental delay, intellectual disability, delayed expressive language skills, recurrent seizures and hypotonia. Macrocephaly may also be associated along with characteristic facial features including prominent forehead, ptosis, downslanting palpebral fissures, puffy periorbital tissue, and full cheeks. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a parent. Finding site True Chromosome pair 18 Inferred relationship Some 1
A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. Finding site True Chromosome pair 18 Inferred relationship Some 2
A deletion of the long (q) arm of chromosome 18 near one end of the chromosome. Manifestations of this disorder are varied and can commonly include short stature, hypotonia, hearing loss, clubfoot or rocker-bottom feet, eye movement disorders and other vision problems, cleft palate, hypothyroidism, congenital heart defects, kidney problems, genital and skin abnormalities. Most cases are the result of a de novo deletion and are not inherited. Finding site True Chromosome pair 18 Inferred relationship Some 1
A rare partial autosomal trisomy with characteristics of a variable phenotype that includes hypotonia, motor delay, mild to severe intellectual disability, seizures, variable cerebral anomalies, finger/toe syndactyly, fifth finger clinodactyly, strabismus, short neck and dysmorphic facial features. Finding site True Chromosome pair 18 Inferred relationship Some 1
Deletion of short arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 1
Deletion of short arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 2
Deletion of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 1
Deletion of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 2
Proximal duplication of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 1
Proximal deletion of long arm of chromosome 18 Finding site True Chromosome pair 18 Inferred relationship Some 3
Fetus with complete trisomy 18 syndrome (disorder) Finding site True Chromosome pair 18 Inferred relationship Some 1

This concept is not in any reference sets

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