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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
71758012 Chromosome pair 21 en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
71758012 Chromosome pair 21 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
779972017 Chromosome pair 21 (body structure) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1203143015 Chromosome pair 21 (cell structure) en Fully specified name Active Only initial character 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 Existential restriction modifier (core metadata concept)
Chromosome pair 21 partie de Nucleus false Additional relationship (core metadata concept) Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial distal trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial trisomy Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy 21 in Down's syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial monosomy syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 21 Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete monosomy 21 (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Translocation Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Down's syndrome NOS Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Complete trisomy 21 syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Translocation Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
21q partial trisomy Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial monosomy syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete monosomy 21 (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial distal trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 21 Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy 21 in Down's syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete trisomy 21 syndrome Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Translocation Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial monosomy syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 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 Existential restriction modifier (core metadata concept) 1
Anomaly of chromosome pair 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy 21 in Down's syndrome Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial distal trisomy (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- meiotic nondisjunction Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 21- mitotic nondisjunction mosaicism Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Complete monosomy 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial trisomy Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 21 syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 3
21q partial monosomy syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodontitis co-occurrent with Down syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 3
Myeloid leukemia associated with Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 5
Myeloid leukemia associated with Down syndrome (disorder) Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 3
Transient abnormal myelopoiesis co-occurrent with Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Deletion of part of chromosome 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Dementia co-occurrent and due to Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 3
Tetrasomy 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Paternal uniparental disomy of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal uniparental disomy of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q22.11q22.12 microdeletion syndrome Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare syndromic intellectual disability with characteristics of global developmental delay including severely delayed or absent speech, moderate to severe intellectual disability, behavioural issues, stereotypic behaviour, 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 Existential restriction modifier (core metadata concept) 2
21q22.11q22.12 microdeletion syndrome Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Down syndrome co-occurrent with leukemoid reaction associated transient neonatal pustulosis (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal deletion of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal duplication of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of chromosome 21 (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal deletion of chromosome 21 Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
Fetus with complete trisomy 21 syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial trisomy Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
21q partial distal trisomy (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Translocation Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Myeloid leukemia associated with Down syndrome (disorder) Finding site True Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2
Periodontitis co-occurrent with Down syndrome Finding site False Chromosome pair 21 Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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