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111310003: syndroom van ringchromosoom 11 (aandoening)

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
178542015 Ring chromosome 11 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
630197016 Ring chromosome 11 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
10256511000146119 syndroom van ringchromosoom 11 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10256531000146114 syndroom van ringchromosoom 11 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10257261000146118 ringchromosoom 11-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4212351016 An autosomal anomaly with characteristics of variable clinical features, including early growth retardation and short stature, microcephaly, developmental delay, some degree of intellectual disability, facial dysmorphism and cafe-au-lait spots. In some cases, congenital heart disease and endocrine abnormalities have been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Ring chromosome 11 syndrome Is a chromosoom vervangen door ringchromosoom of dicentrisch chromosoom false Inferred relationship Some
Ring chromosome 11 syndrome Is a Anomaly of chromosome pair 11 (disorder) true Inferred relationship Some
Ring chromosome 11 syndrome Occurrence Congenital false Inferred relationship Some
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 2
Ring chromosome 11 syndrome Finding site Chromosome false Inferred relationship Some 1
Ring chromosome 11 syndrome Finding site Sex chromosome false Inferred relationship Some 2
Ring chromosome 11 syndrome Associated morphology Ring chromosome false Inferred relationship Some 2
Ring chromosome 11 syndrome Is a Anomaly of sex chromosome false Inferred relationship Some
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 1
Ring chromosome 11 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 3
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 3
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 2
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 3
Ring chromosome 11 syndrome Finding site Chromosome pair 11 false Inferred relationship Some 2
Ring chromosome 11 syndrome Associated morphology Ring chromosome false Inferred relationship Some 2
Ring chromosome 11 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
Ring chromosome 11 syndrome Occurrence Congenital true Inferred relationship Some 1
Ring chromosome 11 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Ring chromosome 11 syndrome Finding site Chromosome pair 11 true Inferred relationship Some 1
Ring chromosome 11 syndrome Is a Ring chromosome true Inferred relationship Some
Ring chromosome 11 syndrome Associated morphology Ring chromosome true Inferred relationship Some 1
Ring chromosome 11 syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Ring chromosome 11 syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
syndroom van café-au-laitvlekken en ringchromosoom 11 Is a False Ring chromosome 11 syndrome Inferred relationship Some

This concept is not in any reference sets

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