FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
Distal trisomy 3p Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 9q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
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) 1
7p22.1 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Xq12-q13.3 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal trisomy 13q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Non-distal trisomy 9q (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) 1
Distal trisomy 5q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
22q11.2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal 16p11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 17q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 19q syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1p36 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1p36 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
2q23.1 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
15q13.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 1q syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Trisomy 1q syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 8p syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Trisomy 8p syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Partial trisomy of short arm of chromosome 8 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Partial trisomy of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
8p23.1 duplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 8, with a highly variable phenotype, principally characterized by mild to moderate developmental delay, intellectual disability, mild facial dysmorphism (including prominent forehead, arched eyebrows, broad nasal bridge, upturned nares, cleft lip and/or palate) and congenital cardiac anomalies (e.g., atrioventricular septal defect). Other reported features include macrocephaly, behavioral abnormalities (e.g., attention deficit disorder), seizures, hypotonia and ocular and digital anomalies (poly/syndactyly). Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
X-linked acrogigantism Associated morphology False Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Non-distal trisomy 10q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
5p13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
5p13 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
11p15.4 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
11p15.4 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression. The syndrome has characteristics of macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
14q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
14q11.2 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
15q overgrowth syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
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 True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal limb deficiency with micrognathia syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
15q overgrowth syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 4
Distal 7q11.23 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal 7q11.23 microduplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal Xq28 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
3q26 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
3q26 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 18q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 18q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Xp22.13p22.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Xp22.13p22.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
10q22.3q23.3 microduplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 with characteristics of congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
X-linked acrogigantism due to Xq26 microduplication Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Methyl-cytosine phosphate guanine binding protein-2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
11p15 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1-q23.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q23.1-q23.2 duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
17q24-qter duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
17q24-qter duplication syndrome Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
22q11.2 duplication syndrome (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 12q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 12q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal duplication of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal duplication of chromosome 15 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal duplication of chromosome 13 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1p Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1p Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal duplication of chromosome 21 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 1q (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 7q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 7q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 8p (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 8p (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 9p Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 9p Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Distal trisomy 3q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Distal trisomy 3q Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Medial duplication of long arm of chromosome 2 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 4 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of chromosome 14 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of chromosome 13 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 1 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 3
Medial duplication of long arm of chromosome 7 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Maternal 15q11q13 deletion Associated morphology False 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) 3
Medial duplication of short arm of chromosome 1 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial duplication of long arm of chromosome 9 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Medial 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 long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 6 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 5 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 6 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 4 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 18 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 2 Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 1
Proximal duplication of long arm of chromosome 3 (disorder) Associated morphology True Partial trisomy Inferred relationship Existential restriction modifier (core metadata concept) 2

Start Page 2 of 3 End

This concept is not in any reference sets

Back to Start