FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.22-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

22497004: 9q partial trisomy syndrome (disorder)

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
37760014 9q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
751910019 9q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4462491000241116 trisomie partielle 9q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

4 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
9q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
9q partial trisomy syndrome Is a Anomaly of chromosome pair 9 false Inferred relationship Some
9q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
9q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
9q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
9q partial trisomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
9q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
9q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
9q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
9q partial trisomy syndrome Finding site Chromosome pair 9 false Inferred relationship Some 1
9q partial trisomy syndrome Occurrence Congenital true Inferred relationship Some 1
9q partial trisomy syndrome Finding site Chromosome pair 9 true Inferred relationship Some 1
9q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Some 1
9q partial trisomy syndrome Is a Partial trisomy of chromosome 9 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 9q is a rare chromosomal anomaly, resulting from the partial trisomy of the long arm of chromosome 9, with a variable phenotype mostly characterized by psychomotor and speech delay, intellectual disability, hypotonia, long narrow habitus, craniofacial dysmorphism (including micro/dolichocephaly, facial asymmetry, narrow palpebral fissures, deep-set eyes, strabismus, microphthalmia, abnormally shaped ears, microstomia, micro/retrognathia) and hand and feet anomalies (including arachnodactyly, camptodactyly, abnormal implantation of digits). Congenital flexion contractures and limited joint movements have also been observed. Is a True 9q partial trisomy syndrome Inferred relationship Some
Non-distal trisomy 9q is a rare chromosomal anomaly syndrome, resulting from the partial trisomy of the long arm of chromosome 9, with a highly variable phenotype principally characterized by developmental delay, short stature, intellectual disability, and craniofacial dysmorphism (e.g. microcephaly, broad forehead, low set ears, epicanthus, prominent nose, and retrognathia). Cardiac, ocular, thyroid and esophagus defects, as well as central nervous system and behavioral/psychiatric abnormalities, have also been reported. Is a True 9q partial trisomy syndrome Inferred relationship Some
Medial duplication of long arm of chromosome 9 Is a True 9q partial trisomy syndrome Inferred relationship Some
Proximal duplication of long arm of chromosome 9 (disorder) Is a True 9q partial trisomy syndrome Inferred relationship Some

This concept is not in any reference sets

Back to Start