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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

387 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 (morphologic abnormality) 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
Ring chromosome 22 syndrome 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
22q11.2 duplication syndrome (disorder) 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 (disorder) 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
Congenital hereditary endothelial dystrophy type 1 (disorder) Associated morphology True 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 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Ring chromosome 18 syndrome 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 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Double Y syndrome 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 (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Ring chromosome 9 syndrome 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
22q13.3 deletion syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy 13 - mitotic nondisjunction mosaicism (disorder) 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
Four X syndrome 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 (disorder) 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
Ring chromosome 1 syndrome 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
Ulnar mammary syndrome 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
Fetus with complete trisomy 13 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Fetus with complete trisomy 18 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Fetus with complete trisomy 21 syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3
Fetus with 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 Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Potocki-Shaffer syndrome 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 (disorder) 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 (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Deletion with complex rearrangement (disorder) 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 (disorder) 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
Chromosome 11p13 deletion syndrome (disorder) 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 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Paternal uniparental disomy of chromosome 20 (disorder) 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
Koolen De Vries syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 3

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