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

Status: current, Defined. Date: 31-Jul 2014. Module: SNOMED CT core

Descriptions:

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

688 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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