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74345006: Congenital disorder due to abnormality of chromosome number OR structure (disorder)

Status: current, Sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
123461015 Chromosomopathy en Synonym Active Entire term case insensitive SNOMED CT core module
123462010 Chromosomal abnormality syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
123463017 Chromosomal hereditary disorder en Synonym Active Entire term case insensitive SNOMED CT core module
123470017 Chromosomal imbalance syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
123471018 Anomaly of chromosome en Synonym Active Entire term case insensitive SNOMED CT core module
200444011 Congenital chromosomal disease en Synonym Active Entire term case insensitive SNOMED CT core module
814834012 Congenital disorder due to abnormality of chromosome number OR structure (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
2770449010 Congenital disorder due to abnormality of chromosome number OR structure en Synonym Active Only initial character case insensitive SNOMED CT core module

686 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital disorder due to abnormality of chromosome number OR structure Is a Congenital disease false Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Associated morphology Alteration of chromosome structure false Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Occurrence Congenital false Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Is a Chromosomal disorder false Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Finding site Chromosome structure false Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Finding site Chromosome structure false Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Is a Congenital anomaly false Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Is a Congenital disease true Inferred relationship Existential restriction modifier
Congenital disorder due to abnormality of chromosome number OR structure Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Finding site Chromosome structure true Inferred relationship Existential restriction modifier 1
Congenital disorder due to abnormality of chromosome number OR structure Is a Chromosomal disorder true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Triploidy, diploidy, mixoploidy syndrome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Monosomy and deletion from autosome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Duplication seen only at prometaphase Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Duplication with other complex rearrangement Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chimera 46, XX; 46, XY Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
46, XX true hermaphrodite Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Triploidy and polyploidy Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Balanced rearrangement and structural marker Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosome replaced with ring or dicentric Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Trisomy and partial trisomy of autosome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Fragile X syndrome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Autosomal recessive ocular albinism Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Anomaly of chromosome pair Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Duplication of chromosome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Absence of sex chromosome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Pseudotrisomy 18 Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Other condition due to autosomal anomaly Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Other sex chromosome anomaly Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal anomalies NOS Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
[X]Chromosomal abnormalities, not elsewhere classified Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
[X]Other specified chromosome abnormalities Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Family history of chromosomal anomaly Associated finding False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier 1
Pallister-Killian syndrome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Autosomal chromosomal disorder Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
XXYY syndrome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chimera Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Group chromosomal alteration Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
[X]Townes-Brocks syndrome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Suspected chromosome abnormality Associated finding False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier 1
Family history of chromosomal anomaly Associated finding True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier 1
Suspected chromosome abnormality Associated finding True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier 1
Chromosomal alterations of group A Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal alterations of group C and X Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal alterations of group D Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal alterations of group B Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Anomaly of chromosome X Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Polyploidy syndrome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal alterations of group E Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal alterations of group F Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Anomaly of chromosome Y Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal alterations of group G and Y Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Anomaly of sex chromosome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Family history of chromosomal anomaly Associated finding False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier 1
Mosaic variegated aneuploidy syndrome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Supernumerary der(22)t(11;22) syndrome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Ring chromosome Is a True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Lujan-Fryns syndrome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Mowat - Wilson syndrome Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
[X]Other specified chromosome abnormalities Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
[X]Chromosomal abnormalities, not elsewhere classified Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Other condition due to autosomal anomaly Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Other sex chromosome anomaly Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Chromosomal anomalies NOS Is a False Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier
Family history of fragile X syndrome in first degree relative Associated finding True Congenital disorder due to abnormality of chromosome number OR structure Inferred relationship Existential restriction modifier 1

This concept is not in any reference sets

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