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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
Toxic leukocyte granulations Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Leukocytic agglutination Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Chromosomal morphology Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cellular hormonal pattern (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cellular stain reaction Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Dual red blood cell population Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Abnormal cell structure Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Rosette Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cell shape alteration Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Axonal swelling Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cell size alteration Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cell content alteration (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Clasmatodendrosis Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cytologic engulfment (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Nuclear lead inclusion Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Nuclear size alteration Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cytoplasmic aggregate Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cytoplasmic accumulation Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Cytoplasmic droplets Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Myelin body formation (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Alteration of mitochondrial cristae Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Fungal cytoplasmic inclusion body Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Plasma membrane globulin coating Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Intracytoplasmic microvilli Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Flagella alteration Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Extracellular alteration Is a False Cellular AND/OR subcellular abnormality Inferred relationship Some
Basement membrane-like material Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Reticulin fibril alteration Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Collagen fibril alteration Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Extracellular granule alteration Is a False Cellular AND/OR subcellular abnormality Inferred relationship Some
Extracellular vacuole alteration (morphologic abnormality) Is a False Cellular AND/OR subcellular abnormality Inferred relationship Some
Extracellular space alteration Is a False Cellular AND/OR subcellular abnormality Inferred relationship Some
Extracellular fluid alteration Is a False Cellular AND/OR subcellular abnormality Inferred relationship Some
Reactive cellular changes (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Hyperparakeratosis Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Herring's bodies Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Russell body Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Muscle fiber change Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Leukostasis Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Flexner-Wintersteiner rosette Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Rouleaux formation Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Homer Wright rosette Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Heinz body Is a False Cellular AND/OR subcellular abnormality Inferred relationship Some
Cytologic atypia Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Satellitosis Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Leukocytic margination Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Margination Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Charcot-Leyden crystals Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
May-Hegglin inclusion Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Neuronophagia Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Mosaicism Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Epithelial cell abnormality (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Erythrocyte inclusion (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Fleurette (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Transitional cell dysplasia (morphologic abnormality) Is a True Cellular AND/OR subcellular abnormality Inferred relationship Some
Complete trisomy 9 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
An autosomal anomaly characterised by variable clinical features, depending on the size and precise location of deleted chromosome segments. Most patients present with developmental delay, intellectual disability, growth retardation, microcephaly, clinodactyly, and dysmorphic features. Congenital heart disease and genitourinary anomalies were reported in some cases. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Trisomy X syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Sex chromosome abnormality - male phenotype Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Partial trisomy 13 in Patau's syndrome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 21 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome Y Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Turner's phenotype, mosaicism 45, X; 46, XX or 45, X; 46, XY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Female with more than three X chromosomes Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 13 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Congenital hereditary endothelial dystrophy (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 2
Anomaly of chromosome pair Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 22 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 15 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Turner syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Karyotype 46, X with abnormal sex chromosome except iso (Xq) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 2 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaic XO/XY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Mosaic including XXXXY Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Partial tetrasomy of chromosome 9 (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Sex chromosome abnormality - female phenotype Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 14 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Turner's phenotype, karyotype normal Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Gynandromorphism syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 17 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 10 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Translocation Down syndrome (disorder) Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 14 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
An autosomal anomaly with characteristics of variable clinical features, most commonly including growth retardation, developmental delay, intellectual disability, epilepsy, microcephaly, short stature, dysmorphic features, hypogammaglobulinaemia, thrombocytopenia and unspecific skeletal anomalies (hemivertebrae, clinodactyly, syndactyly). In rare cases, it has been described in phenotypically normal individuals. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Complete trisomy 18 syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 5 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Poly Y syndrome (disorder) Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 6 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A rare autosomal anomaly characterized by variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Partial trisomy 18 in Edward's syndrome Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
XXXXY syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
XX males Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 10 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
A rare chromosomal disorder, characterised by childhood onset drug resistant epilepsy with typical electroencephalographic findings (EEG), mild to severe intellectual disability and behavioural problems. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 20 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Autosomal anomaly characterised by variable clinical features, most commonly including significant intrauterine and postnatal growth retardation, developmental delay, intellectual disability, microcephaly, and dysmorphic facial features. Some less frequent features are cleft lip and/or cleft palate, congenital cardiovascular, gastrointestinal and genitourinary system anomalies. Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 21 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Anomaly of chromosome pair 8 Associated morphology True Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Chromosome 16p11.2 deletion syndrome Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 1
Polymorphous corneal dystrophy Associated morphology False Cellular AND/OR subcellular abnormality Inferred relationship Some 2

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