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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
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 4 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 18 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 17 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 10 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 12 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 10 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Mosaic 1q duplication Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 11 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 9 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 11 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 6 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 3 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 8 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 8 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of chromosome 21 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of chromosome 15 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of chromosome 13 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
7q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
7q11.23 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
7p partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 7p syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
7p22.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
22q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 22q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally characterized by developmental delay, intellectual disability, behavioral anomalies, and non-specific craniofacial dysmorphism. Congenital heart malformations, visual and hearing impairment, urogenital abnormalities, and seizures have also been reported. Penetrance is incomplete. In 70% of cases, the duplication is inherited from an asymptomatic parent. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
21q partial trisomy Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial trisomy Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
21q partial distal trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
21q partial distal trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy 21 in Down's syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Cat eye 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) 2
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) 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) 2
Distal trisomy 20q syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
14q partial trisomy (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
14q partial proximal trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
14q partial distal trisomy syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
5p partial trisomy Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Chromosome Xq27.3q28 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Chromosome Xq27.3q28 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
Distal Xq28 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Xq28-Duplikationssyndrom, proximales Associated morphology False 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) 2
Xq12-q13.3 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial duplication of long arm of chromosome 15 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial duplication of long arm of chromosome 15 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
15q13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
15q11q13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Duplication of part of short arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of short arm of chromosome 16 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal 16p11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
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) 2
16p13.3 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
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) 2
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Duplication of part of long arm of chromosome 16 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
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) 2
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Peripheral myelin protein 22-retinoic acid induced 1 contiguous gene duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare, X-linked, multiple congenital anomalies/dysmorphic malformation-intellectual disability syndrome characterized by developmental delay, mild to moderate intellectual disability, speech disturbance, behavioral problems (such as anxiety, hyperactivity, and aggressiveness) and mild facial dysmorphism (including facial hypotonia, thin arched eyebrows, ectropion, epicanthus, malar flatness, thick vermillion of the lips and prognathia). Additional variable manifestations include short stature, skeletal and genital anomalies, seizures, and autism spectrum disorders. Brain imaging may reveal cerebellar vermis hypoplasia, thin corpus callosum, and enlarged subarachnoid spaces. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
19p13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
19p13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
14q32 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
14q32 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2

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