702345009: syndrome du chromosome 14 en anneau (trouble)

SNOMED CT Concept\constatation clinique\Disease\...

\anomalie chromosomique\maladie chromosomique congénitale\...

\Ring chromosome\Ring chromosome 14 syndrome (disorder)

\Anomaly of chromosome pair\anomalie du chromosome 14\Ring chromosome 14 syndrome (disorder)

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 14 syndrome (disorder)
\Congenital disease\maladie chromosomique congénitale\Ring chromosome\Ring chromosome 14 syndrome (disorder)
\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 14\Ring chromosome 14 syndrome (disorder)

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Ring chromosome 14 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

2995389010 Ring chromosome 14 syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995489011 Ring chromosome 14 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995651012 Ring chromosome 14 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

2995728019 Ring 14 syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

732711000241113 syndrome du chromosome 14 en anneau (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

901941000172113 syndrome du chromosome 14 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

912511000172111 chromosome 14 en anneau fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

4212350015 Disease with characteristics of by intellectual deficit, retinal and skin pigmentation disorders, seizures, and dysmorphic features, including flat occiput, epicanthal folds, downward slanting eyes, flat nasal bridge, upturned nostrils, short neck and large low set ears. 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 14 syndrome (disorder)	est un(e) (attribut)	anomalie du chromosome 14	true	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	est un(e) (attribut)	Ring chromosome	true	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 14	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	est un(e) (attribut)	Chromosome replaced with ring or dicentric	false	Inferred relationship	Some
Ring chromosome 14 syndrome (disorder)	morphologie associée (attribut)	Ring chromosome	true	Inferred relationship	Some	1
Ring chromosome 14 syndrome (disorder)	survenue (attribut)	congénital	false	Inferred relationship	Some	2
Ring chromosome 14 syndrome (disorder)	morphologie associée (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some	2
Ring chromosome 14 syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome structure (cell structure)	false	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Canada English language reference set (foundation metadata concept)