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766755003: tétrasomie 5p (trouble)

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

\anomalie chromosomique\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 5 (trouble)\Tetrasomy 5p syndrome (disorder)

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Tetrasomy 5p syndrome (disorder)
\Congenital disease\maladie chromosomique congénitale\Anomaly of chromosome pair\anomalie du chromosome 5 (trouble)\Tetrasomy 5p syndrome (disorder)

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Tetrasomy 5p syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3662505017 Tetrasomy 5p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3662506016 Isochromosome 5p en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4565104014 Tetrasomy 5p syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4565107019 Tetrasomy 5p syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

768321000241113 tétrasomie 5p (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

927641000172116 tétrasomie 5p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

933441000172113 isochromosome 5p fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)

3662508015 A rare chromosomal anomaly syndrome with variable phenotype and principle characteristics of developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (for example clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia). 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
Tetrasomy 5p syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Tetrasomy 5p syndrome (disorder)	est un(e) (attribut)	syndrome de malformations multisystémiques	true	Inferred relationship	Some
Tetrasomy 5p syndrome (disorder)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
Tetrasomy 5p syndrome (disorder)	localisation d'une constatation (attribut)	Chromosome pair 5 (cell structure)	true	Inferred relationship	Some	1
Tetrasomy 5p syndrome (disorder)	est un(e) (attribut)	anomalie du chromosome 5 (trouble)	true	Inferred relationship	Some
Tetrasomy 5p syndrome (disorder)	morphologie associée (attribut)	Tetrasomy	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3662505017	Tetrasomy 5p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3662506016	Isochromosome 5p	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4565104014	Tetrasomy 5p syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4565107019	Tetrasomy 5p syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
768321000241113	tétrasomie 5p (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
927641000172116	tétrasomie 5p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
933441000172113	isochromosome 5p	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3662508015	A rare chromosomal anomaly syndrome with variable phenotype and principle characteristics of developmental delay, growth retardation/short stature, hypotonia, seizures, ventriculomegaly, hand and foot anomalies (for example clinodactyly, overlapping toes) and mosaic pigmentary skin changes. Patients may also present minor dysmorphic craniofacial features (including macrocephaly, upslanting palpebral fissures, hypertelorism, abnormal auricles, anteverted nasal tip, midface hypoplasia).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core