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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
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
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

388 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 Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Polymorphous corneal dystrophy Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 2
Anomaly of chromosome pair 3 (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 8 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 12 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Penta X syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
XY, female phenotype Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Partial trisomy 21 in Down's syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Karyotype 46, X iso (Xq) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Male with sex chromosome mosaicism Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Turner's phenotype, partial X deletion karyotype (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 13 syndrome (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - mitotic nondisjunction mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 19 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaicism - lines with various numbers of X chromosomes Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial distal trisomy (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Klinefelter's syndrome, XXY (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Male with structurally abnormal sex chromosome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Turner's phenotype - ring chromosome karyotype Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 20 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 16 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 18 - meiotic nondisjunction (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Klinefelter's syndrome XXXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Klinefelter's syndrome XXXXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic XO/XX Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
dystrophie endothéliale congénitale héréditaire type I Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 2
Tetrasomy 12p syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome X Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Sex phenotype-karyotype dissociation syndrome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Angelman syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 3
fraxa Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 22 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Mixed gonadal dysgenesis Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 2
Anomaly of chromosome pair 7 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 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. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Additional sex chromosome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Sex chromosome mosaicism (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Double Y syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
XXXY syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 9 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Café-au-lait spots and ring chromosome 11 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 11 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 9 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Fragile X chromosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 4 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
15q24 microdeletion Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 13, meiotic nondisjunction Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital hereditary endothelial dystrophy type 2 (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter syndrome, male with 46,XX karyotype Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
15q13.3 microdeletion Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaicism 45, X; 46, XX Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaic XY/XXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
22q13.3 deletion syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial trisomy Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
XY females Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 18 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Mosaicism 45, X / other cell line with abnormal sex chromosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Four X syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 1 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial monosomy syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 2
Klinefelter's syndrome, XXYY (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Klinefelter's syndrome - male with more than two X chromosomes Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 16 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Tetrasomy 18p Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
1q21.1 microdeletion syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
fraxe Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Klinefelter's syndrome, XY/XXY mosaic Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Ring chromosome 1 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of sex chromosome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Ulnar mammary syndrome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome 2q37 deletion syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 13 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 3
Fetus with complete trisomy 18 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 3
Fetus with complete trisomy 21 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 3
Fetus with Turner syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 3
Prader-Willi syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Williams syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 2
Potocki-Shaffer syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 6
Deletion of part of autosome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Autosomal deletion - mosaicism (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome monosomy - mitotic nondisjunction mosaicism Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11 partial monosomy syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy 21, mosaicism (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 18 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Monosomy and deletion from autosome (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion with complex rearrangement Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 13 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Whole chromosome monosomy - meiotic nondisjunction (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion seen only at prometaphase Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Deletion of short arm of chromosome 18 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Periodontitis co-occurrent with Down syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 2
Tetrasomy of short arm of chromosome 9 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Deletion of long arm of chromosome 17 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 1
Koolen De Vries syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Existential restriction modifier (core metadata concept) 3

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