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133849008: Partial trisomy (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
213572013 Partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738589017 Partial trisomy (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
213572013 Partial trisomy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
213572013 Partial trisomy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738589017 Partial trisomy (morphologic abnormality) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
738589017 Partial trisomy (morphologic abnormality) 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
Partial trisomy Is a Trisomy (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group
3p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
6p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial distal trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
2p partial trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
20q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
8q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
18p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
9q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
12p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial proximal trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
14q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
9p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
13q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
12q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
18q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
19q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
16q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
2q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
4p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
7p partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
1q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
7q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
3q partial trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
13p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
11q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
6q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
4q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
10p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
11p partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Disorder resulting from duplication of all or part of the short arm of chromosome 20 with characteristics of normal growth, mild to moderate intellectual disability, speech delay, poor coordination and evocative facial features. The chromosomal anomaly may occur de novo, but most reported cases arise from a reciprocal translocation or, as described in a few cases, a parental inversion. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
8p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
16p partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
22q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
10q partial trisomy syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
15q partial trisomy syndrome Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q21.31 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 17p is a rare chromosomal abnormality resulting from the duplication of the short arm of chromosome 17 and characterized by pre- and post-natal growth retardation, developmental delay, hypotonia, digital abnormalities, congenital heart defects, and distinctive facial features. Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
3q29 microduplication Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 10q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
15q11q13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.11 microduplication syndrome is a recently described syndrome associated with variable clinical features including behavioral abnormalities, developmental delay, congenital heart defects and skeletal anomalies. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
5q35 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
8q12 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Xq28-Duplikationssyndrom, proximales Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
17p13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Microduplication Xp11.22p11.23 syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 6p syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal limb deficiency with micrognathia syndrome Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 5
4p16.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
7q11.23 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 4 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of long arm of chromosome 5 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 6 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 10 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 11 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 12 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 13 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 14 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 18 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of short arm of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 19 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
Partial trisomy of chromosome 20 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 21 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of chromosome 22 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
16p13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
16p11.2p12.2 microduplication syndrome is a rare chromosomal anomaly syndrome resulting from the partial duplication of the short arm of chromosome 16 with a highly variable phenotype typically characterized by developmental/psychomotor delay (particularly of speech), intellectual disability, autism spectrum disorder and/or obsessive and repetitive behavior, behavioral problems (such as aggression and outbursts), dysmorphic facial features (triangular face, deep set eyes, broad and prominent nasal bridge, upslanting or narrow palpebral features, hypertelorism). Additionally, finger/hand anomalies, short stature, microcephaly and slender build are frequently described. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17p11.2 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
5q35 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
20q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, due to partial duplication of the long arm of chromosome 20, characterized by psychomotor and developmental delay, moderate intellectual disability, metopic ridging/trigonocephaly, short hands and/or feet and distinctive facial features (epicanthus, hypoplastic supraorbital ridges, horizontal/downslanting palpebral fissures, small nose with depressed nasal bridge and anteverted nostrils, prominent cheeks, retrognathia and small, thick ears). Growth delay and cryptorchidism are often associated features. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 2q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 4q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 5q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 6q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 7p syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 8q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, speech delay, seizures, microcephaly, behavioral abnormalities, autism spectrum disorder, eye or vision defects (such as strabismus, astigmatism, amblyopia, cataract, coloboma, and microphthalmia), non-specific dysmorphic features, hypotonia, cardiac and renal anomalies, schizophrenia. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 11q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 13q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 16q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 16, with variable phenotype principally characterized by developmental delay, severe intellectual disability, hypotonia, facial dysmorphism (including high, prominent forehead, epicanthic folds, dysplastic ears, broad/depressed nasal bridge, malar hypoplasia, narrow and arched palate, thin upper lip vermilion, micrognathia) and hand/feet anomalies (e.g. arachnodactyly, talipes equinovarus). Cardiac defects, genitourinary malformations and vertebral anomalies are also associated. Thrombocytopenia and recurrent infections have also been reported. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 20q syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 22q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 2p (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 3p Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1

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