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43009003: Chromosome pair 21 (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
71758012 Chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1203143015 Chromosome pair 21 (cell structure) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Chromosome pair 21 Is a Chromosome true Inferred relationship Some
Chromosome pair 21 partie de Nucleus false Additional relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 1
21q partial distal trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
21q partial trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
Partial trisomy 21 in Down's syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
21q partial monosomy syndrome Finding site False Chromosome pair 21 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. Finding site False Chromosome pair 21 Inferred relationship Some 1
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Anomaly of chromosome pair 21 Finding site False Chromosome pair 21 Inferred relationship Some 1
Complete monosomy 21 (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 1
Translocation Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site True Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 1
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Some 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Translocation Down syndrome (disorder) Finding site False Chromosome pair 21 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. Finding site False Chromosome pair 21 Inferred relationship Some 1
21q partial trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
21q partial monosomy syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Complete monosomy 21 (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
21q partial distal trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
Anomaly of chromosome pair 21 Finding site False Chromosome pair 21 Inferred relationship Some 1
Partial trisomy 21 in Down's syndrome Finding site False Chromosome pair 21 Inferred relationship Some 1
Complete trisomy 21 syndrome Finding site True Chromosome pair 21 Inferred relationship Some 1
Translocation Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 1
21q partial monosomy syndrome Finding site True Chromosome pair 21 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. Finding site True Chromosome pair 21 Inferred relationship Some 1
Anomaly of chromosome pair 21 Finding site True Chromosome pair 21 Inferred relationship Some 1
Partial trisomy 21 in Down's syndrome Finding site True Chromosome pair 21 Inferred relationship Some 1
21q partial distal trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- meiotic nondisjunction Finding site True Chromosome pair 21 Inferred relationship Some 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site True Chromosome pair 21 Inferred relationship Some 1
Complete monosomy 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 1
21q partial trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 1
Fetal complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Some 3
21q partial monosomy syndrome Finding site True Chromosome pair 21 Inferred relationship Some 2
Periodontitis co-occurrent with Down syndrome Finding site False Chromosome pair 21 Inferred relationship Some 3
Myeloid leukemia associated with Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 5
Myeloid leukemia associated with Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Some 3
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 2
Deletion of part of chromosome 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 1
Partial trisomy of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Some 1
Dementia with Down syndrome Finding site True Chromosome pair 21 Inferred relationship Some 3
Tetrasomy 21 is an extremely rare autosomal anomaly resulting from the presence of 4 copies of chromosome 21, characterized by features of trisomy 21 including developmental delay/intellectual disability, muscular hypotonia, short neck with redundant skin, brachycephaly, microcephaly, flat face, epicanthus, upslanted palpebral fissures, small ears, protruding tongue, single transverse palmar crease, brachydactyly, hypoplastic iliac wings, together with additional features such as prematurity, intrauterine growth retardation, high and broad forehead, hypertelorism. Hematological malignancies are also associated and may occur earlier than in trisomy 21. Finding site True Chromosome pair 21 Inferred relationship Some 1
Paternal uniparental disomy of chromosome 21 is a uniparental disomy of paternal origin that most likely does not have any phenotypic expression except from cases of homozygosity for a recessive disease mutation for which only father is a carrier. Finding site True Chromosome pair 21 Inferred relationship Some 1
Maternal uniparental disomy of chromosome 21 is a uniparental disomy of maternal origin that does not seem to have an adverse impact on the phenotype of an individual. There is a possibility of homozygosity for a recessive disease mutation for which the mother is a carrier and specific phenotype depends on the inherited disorder. Finding site True Chromosome pair 21 Inferred relationship Some 1
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Finding site True Chromosome pair 21 Inferred relationship Some 2
A rare, syndromic intellectual disability characterized by global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioral issues, stereotypic behavior, febrile seizures and epilepsy, abnormal gait, vision defects, and characteristic facial features. Intrauterine growth restriction and feeding difficulties are frequently present. Finding site True Chromosome pair 21 Inferred relationship Some 2
A rare, genetic, chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21 characterized by pre- and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia, and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion, and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum), behavioral problems and seizures may be associated. Finding site True Chromosome pair 21 Inferred relationship Some 1
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 2
Distal deletion of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Some 1
Distal duplication of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Some 1
Proximal duplication of chromosome 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 1
Proximal deletion of chromosome 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 1
Fetal complete trisomy 21 syndrome Finding site True Chromosome pair 21 Inferred relationship Some 1
21q partial trisomy (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 2
21q partial distal trisomy (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 2
Translocation Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 2
Myeloid leukemia associated with Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Some 2
Periodontitis co-occurrent with Down syndrome Finding site False Chromosome pair 21 Inferred relationship Some 2

This concept is not in any reference sets

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