60650002: syndroom van ringchromosoom 9 (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\...

\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 9 syndrome

\Congenital chromosomal disease\Ring chromosome\Ring chromosome 9 syndrome
\Congenital chromosomal disease\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Ring chromosome 9 syndrome

\Chromosomal disorder (disorder)\Congenital chromosomal disease\...

\Ring chromosome\Ring chromosome 9 syndrome

\Anomaly of chromosome pair\Anomaly of chromosome pair 9\Ring chromosome 9 syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Ring chromosome 9 syndrome

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

100762016 Ring chromosome 9 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

799625013 Ring chromosome 9 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

10257101000146113 syndroom van ringchromosoom 9 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10257111000146110 syndroom van ringchromosoom 9 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

10257121000146117 ringchromosoom 9-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

4212337016 An autosomal anomaly with characteristics of variable clinical features, most commonly including developmental delay, some degree of intellectual disability, facial dysmorphism, microcephaly, congenital heart anomalies and variable genital, limb and skeletal anomalies. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Ring chromosome 9 syndrome	Is a	Anomaly of chromosome pair 9	true	Inferred relationship	Some
Ring chromosome 9 syndrome	Is a	chromosoom vervangen door ringchromosoom of dicentrisch chromosoom	false	Inferred relationship	Some
Ring chromosome 9 syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Ring chromosome 9 syndrome	Finding site	Sex chromosome	false	Inferred relationship	Some
Ring chromosome 9 syndrome	Associated morphology	Ring chromosome	false	Inferred relationship	Some	2
Ring chromosome 9 syndrome	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Finding site	Chromosome pair 9	false	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some
Ring chromosome 9 syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Finding site	Chromosome pair 9	true	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Associated morphology	Cellular AND/OR subcellular abnormality	false	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Is a	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 9 syndrome	Associated morphology	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 9 syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some

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This concept is not in any reference sets