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13555004: syndroom van ringchromosoom 22 (aandoening)

Status: current, 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
23143016 Ring chromosome 22 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
738916012 Ring chromosome 22 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
10256881000146110 syndroom van ringchromosoom 22 nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10256891000146112 syndroom van ringchromosoom 22 (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10256901000146113 ringchromosoom 22-syndroom nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
4212339018 An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioural characteristics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4212340016 An autosomal anomaly with characteristics of variable clinical features, most commonly including global developmental delay, hypotonia, growth retardation with microcephaly, intellectual disability with severe speech delay, seizures or abnormal EEG, autistic spectrum disorder and other behavioral characteristics. 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 22 syndrome Is a Anomaly of chromosome pair 22 true Inferred relationship Some
Ring chromosome 22 syndrome Is a chromosoom vervangen door ringchromosoom of dicentrisch chromosoom false Inferred relationship Some
Ring chromosome 22 syndrome Finding site Chromosome pair 22 false Inferred relationship Some 1
Ring chromosome 22 syndrome Occurrence Congenital false Inferred relationship Some
Ring chromosome 22 syndrome Associated morphology Ring chromosome false Inferred relationship Some 2
Ring chromosome 22 syndrome Finding site Sex chromosome false Inferred relationship Some
Ring chromosome 22 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some 1
Ring chromosome 22 syndrome Finding site Chromosome pair 22 false Inferred relationship Some 1
Ring chromosome 22 syndrome Associated morphology congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
Ring chromosome 22 syndrome Occurrence Congenital true Inferred relationship Some 1
Ring chromosome 22 syndrome Associated morphology Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
Ring chromosome 22 syndrome Finding site Chromosome pair 22 true Inferred relationship Some 1
Ring chromosome 22 syndrome Is a Ring chromosome true Inferred relationship Some
Ring chromosome 22 syndrome Associated morphology Ring chromosome true Inferred relationship Some 1
Ring chromosome 22 syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Ring chromosome 22 syndrome Is a Multiple system malformation syndrome true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

GB English

US English

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