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5982001: 2q 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
10946013 2q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
798705014 2q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4408391000241110 trisomie partielle 2q fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

5 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
2q partial trisomy syndrome Is a Anomaly of chromosome pair 2 false Inferred relationship Some
2q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
2q partial trisomy syndrome Finding site Chromosome pair 2 false Inferred relationship Some 1
2q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
2q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
2q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
2q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
2q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
2q partial trisomy syndrome Finding site Chromosome pair 2 false Inferred relationship Some 1
2q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
2q partial trisomy syndrome Occurrence Congenital true Inferred relationship Some 1
2q partial trisomy syndrome Finding site Chromosome pair 2 true Inferred relationship Some 1
2q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Some 1
2q partial trisomy syndrome Is a Partial trisomy of chromosome 2 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy 2q is a rare chromosomal anomaly, resulting from the partial duplication of the long arm of chromosome 2, characterized by moderate psychomotor delay, mild intellectual disability, facial dysmorphism (high hairline, prominent forehead, hypertelorism, upslanting palpebral fissures, large, low-set and/or posteriorly rotated ears, depressed/broad nasal bridge, prominent nasal tip, thin upper lip vermillion), clino-/camptodactyly and normal or increased body measurements. On occasion genital anomalies (hypospadias, cryptorchidism, shawl scrotum) and short stature may be observed. Is a True 2q partial trisomy syndrome Inferred relationship Some
2q23.1 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 2, primarily characterized by global developmental delay, hypotonia, autistic-like features and behavioral problems. Craniofacial dysmorphism (arched eyebrows, hypertelorism, bilateral ptosis, prominent nose, wide mouth, micro/retrognathia) and an affable personality are also commonly associated. Minor digital anomalies (fifth finger clinodactyly and large, broad first toe) have occasionally been reported. Is a True 2q partial trisomy syndrome Inferred relationship Some
A rare, genetic, chromosomal anomaly syndrome resulting from partial duplication of the long arm of chromosome 2 characterized by congenital pendular nystagmus associated with bilateral cutaneous syndactyly between the third and fourth fingers. Is a True 2q partial trisomy syndrome Inferred relationship Some
Medial duplication of long arm of chromosome 2 Is a True 2q partial trisomy syndrome Inferred relationship Some
Proximal duplication of long arm of chromosome 2 Is a True 2q partial trisomy syndrome Inferred relationship Some

This concept is not in any reference sets

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