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107673000: Cellular AND/OR subcellular abnormality (morphologic abnormality)

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
172109016 Cellular AND/OR subcellular abnormality en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
593432018 Cellular AND/OR subcellular abnormality (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
65111000077114 anomalie cellulaire et/ou subcellulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

390 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Cellular AND/OR subcellular abnormality Is a Morphologically abnormal structure true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Polymorphous corneal dystrophy Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Anomaly of chromosome pair 3 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 8 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 12 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Penta X syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
XY, female phenotype Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Partial trisomy 21 in Down's syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Karyotype 46, X iso (Xq) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Male with sex chromosome mosaicism Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Turner's phenotype, partial X deletion karyotype Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 13 syndrome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 19 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A rare chromosomal anomaly characterised by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
21q partial distal trisomy (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Klinefelter's syndrome, XXY (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Male with structurally abnormal sex chromosome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Turner's phenotype - ring chromosome karyotype Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 20 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 16 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 18 - meiotic nondisjunction Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Klinefelter's syndrome XXXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Klinefelter's syndrome XXXXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaic XO/XX Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
dystrophie endothéliale congénitale héréditaire type I Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Tetrasomy 12p syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome X Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Sex phenotype-karyotype dissociation syndrome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Angelman syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
fraxa Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 22 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mixed gonadal dysgenesis Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Anomaly of chromosome pair 7 (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A rare autosomal anomaly characterized by 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. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Additional sex chromosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Sex chromosome mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A sex chromosome aneuploidy where males receive an additional Y chromosome, and with clinical characteristics of tall stature evident from childhood, macrocephaly, facial features (mild hypertelorism, low set ears, a mildly flat malar region), speech delay and an increased risk for social and emotional difficulties, attention deficit hyperactive disorder and autistic spectrum disorder. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
XXXY syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 9 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Café-au-lait spots and ring chromosome 11 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 11 Associated morphology True Cellular AND/OR subcellular abnormality 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. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Fragile X chromosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 4 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
15q24 microdeletion Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 13, meiotic nondisjunction Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Klinefelter syndrome, male with 46,XX karyotype (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
15q13.3 microdeletion Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaicism 45, X; 46, XX Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaic XY/XXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A rare genetic neurodevelopmental disorder characterised by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
21q partial trisomy (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
XY females Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 18 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Tetrasomy X is a sex chromosome anomaly caused by the presence of two extra X chromosomes in females (48,XXXX instead of 46,XX). Prevalence is unknown but only around 40 cases have been reported in the literature so far. Tetrasomy X is associated with delayed speech, learning difficulties, developmental delay and facial dysmorphism. Although disease severity is variable, the learning difficulties and developmental delay are generally mild to moderate. Commonly associated facial features include hypertelorism, upslanting palpebral fissures, epicanthal folds and a flat nasal bridge. Other anomalies may include dental abnormalities, hypotonia and joint laxity, radioulnar synostosis, heart defects, hip dysplasia, and ovarian dysfunction. An increased susceptibility to infections during childhood has also been reported. Tetrasomy X is generally thought to arise as a result of successive maternal nondisjunction during meiosis. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 1 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
11p partial monosomy syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Klinefelter's syndrome, XXYY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 16 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Tetrasomy 18p Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
1q21.1 microdeletion Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
fraxe Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of sex chromosome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
An extremely rare inherited disorder characterized by malformations of the ulnar ray, hypoplasia and dysfunction of the axillary apocrine and mammary glands, endocrine dysfunction, dental anomalies, and occasional visceral malformations. Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Chromosome 2q37 deletion syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Fetal complete trisomy 13 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Fetal complete trisomy 18 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Fetal complete trisomy 21 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Fetal Turner syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Prader-Willi syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Williams syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
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. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 6
Deletion of part of autosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Autosomal deletion - mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
22q11 partial monosomy syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Monosomy 21, mosaicism Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion of long arm of chromosome 18 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Monosomy and deletion from autosome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion with complex rearrangement Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion of long arm of chromosome 13 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Whole chromosome monosomy - meiotic nondisjunction Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion seen only at prometaphase Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion of short arm of chromosome 18 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Periodontitis co-occurrent with Down syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
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. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Tetrasomy of short arm of chromosome 9 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Maternal uniparental disomy of chromosome 20 (UPD 20) is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the mother. The main feature described is prenatal and postnatal growth retardation. Microcephaly, minor dysmorphic features and psychomotor developmental delay have been occasionally reported. Maternal UPD20 is most often ascertained by a mosaic trisomy 20 pregnancy. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Paternal uniparental disomy of chromosome 20 is a very rare chromosomal anomaly in which both copies of chromosome 20 are inherited from the father. The main features described are high birth weight and/or early-onset obesity, relative macrocephaly, and tall stature. Most patients were ascertained during sporadic pseudohypoparathyroidism type 1b testing and have UPD involving variable segments of the long arm of chromosome 20. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion of long arm of chromosome 17 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A rare multisystem disorder characterised by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3

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