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47017007: Ring chromosome 1 syndrome (disorder)


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
433021000241118 syndrome du chromosome 1 en anneau (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
78364012 Ring chromosome 1 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
784429013 Ring chromosome 1 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
913761000172111 chromosome 1 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
975171000172114 syndrome du chromosome 1 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
4212335012 An autosomal anomaly with characteristics of variable clinical features, most commonly including significant intrauterine and postnatal growth failure, developmental delay, intellectual disability, microcephaly and dysmorphic facial features. Some less frequent clinical features are dysgenesis of corpus callosum, atrial septal defect, rocker bottom feet and clinodactyly. 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
syndrome du chromosome 1 en anneau (trouble) est un(e) (attribut) Ring chromosome true Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) survenue (attribut) congénital false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) est un(e) (attribut) Anomaly of chromosome pair 1 true Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) est un(e) (attribut) Chromosome replaced with ring or dicentric false Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) true Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) morphologie associée (attribut) Ring chromosome false Inferred relationship Some 2
syndrome du chromosome 1 en anneau (trouble) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) survenue (attribut) congénital true Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) morphologie associée (attribut) Cellular AND/OR subcellular abnormality false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Chromosome pair 1 (cell structure) false Inferred relationship Some 1
syndrome du chromosome 1 en anneau (trouble) localisation d'une constatation (attribut) Sex chromosome (cell structure) false Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) survenue (attribut) congénital false Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) morphologie associée (attribut) Ring chromosome true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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