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73035005: 10q 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
121311016 10q partial trisomy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
813379011 10q partial trisomy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4629291000241115 trisomie partielle 10q 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
10q partial trisomy syndrome Is a Anomaly of chromosome pair 10 false Inferred relationship Some
10q partial trisomy syndrome Is a Trisomy and partial trisomy of autosome false Inferred relationship Some
10q partial trisomy syndrome Occurrence Congenital false Inferred relationship Some
10q partial trisomy syndrome Finding site Sex chromosome false Inferred relationship Some
10q partial trisomy syndrome Associated morphology Trisomy false Inferred relationship Some
10q partial trisomy syndrome Finding site Chromosome pair 10 false Inferred relationship Some 1
10q partial trisomy syndrome Associated morphology Alteration of chromosome structure false Inferred relationship Some
10q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some 1
10q partial trisomy syndrome Finding site Chromosome pair 10 false Inferred relationship Some 1
10q partial trisomy syndrome Associated morphology anomalie congénitale false Inferred relationship Some
10q partial trisomy syndrome Occurrence Congenital true Inferred relationship Some 1
10q partial trisomy syndrome Finding site Chromosome pair 10 true Inferred relationship Some 1
10q partial trisomy syndrome Associated morphology Partial trisomy true Inferred relationship Some 1
10q partial trisomy syndrome Is a Partial trisomy of chromosome 10 (disorder) true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Distal trisomy of the long arm of chromosome 10 (10q) is characterized by pre- and postnatal growth retardation, a pattern of specific facial features, hypotonia, and developmental and psychomotor delay. Is a True 10q partial trisomy syndrome Inferred relationship Some
The distal limb deficiencies-micrognathia syndrome is characterized by the combination of symmetric severe distal limb reduction deficiencies affecting all four limbs (oligodactyly), microretrognathia, and microstomia with or without cleft palate. Is a True 10q partial trisomy syndrome Inferred relationship Some
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (including microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism. Is a True 10q partial trisomy syndrome Inferred relationship Some
A rare, chromosomal anomaly characterized by variable clinical features that may include developmental delay, mild intellectual disability and dysmorphic facial features. In some cases, microcephaly, growth retardation and congenital heart defects have been reported. Is a True 10q partial trisomy syndrome Inferred relationship Some
Proximal duplication of long arm of chromosome 10 Is a True 10q partial trisomy syndrome Inferred relationship Some

This concept is not in any reference sets

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