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10572007: 13q partial trisomy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2009. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
18377017 13q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
574386010 13q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4424331000241110 trisomie partielle 13q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

2 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
13q partial trisomy syndrome Is a Anomaly of chromosome pair 13 false Inferred relationship Some
13q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
13q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
13q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
13q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some 1
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 2
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 2
13q partial trisomy syndrome Finding site Chromosome pair 13 false Inferred relationship Some 1
13q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
13q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
13q partial trisomy syndrome Occurrence Congenital true Inferred relationship Some 1
13q partial trisomy syndrome Finding site Chromosome pair 13 true Inferred relationship Some 1
13q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Some 1
13q partial trisomy syndrome Is a Partial trisomy of chromosome 13 true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Complete trisomy 13 syndrome Is a False 13q partial trisomy syndrome Inferred relationship Some
Distal trisomy 13q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 13, with variable phenotype principally characterized by intellectual disability, psychomotor delay, craniofacial dysmorphism (including microcephaly, bushy eyebrows, long curled eyelashes, hypotelorism, low-set ears, prominent nasal bridge, long philtrum, high palate, thin upper lip), short neck, polydactyly, and hemangiomas. Cardiac, urogenital and neural tube defects, as well as umbilical and inguinal hernias, seizures and hypotonia, have also been reported. Is a True 13q partial trisomy syndrome Inferred relationship Some
Non-distal trisomy 13q is a rare chromosomal anomaly disorder, resulting from the partial duplication of the proximal long arm of chromosome 13, with a highly variable phenotype principally characterized by increased polymorphonuclear leucocyte projections and persistence of fetal hemoglobin, as well as growth and developmental delay and craniofacial dysmorphism (including microcephaly, depressed nasal bridge, stubby nose, low-set, malformed ears, cleft lip/palate, micrognathia). Strabismus, clinodactyly and undescended testes in males may also be associated. Is a True 13q partial trisomy syndrome Inferred relationship Some

This concept is not in any reference sets

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