4434006: Bloom syndrome (disorder)

SNOMED CT Concept\constatation clinique\...

\constatation à propos du développement physiologique\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)

\constatation générale à propos de l'observation du patient\Body measurement finding\Height / growth finding\General finding of height\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)

\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Primary immune deficiency disorder (disorder)\Immunodeficiency associated with chromosomal abnormality\syndrome de Bloom (trouble)
\Disease\trouble de la fonction immunitaire\troubles d'immunodéficience\Congenital immunodeficiency disease\syndrome de Bloom (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)
\Disease\Congenital disease\Congenital immunodeficiency disease\syndrome de Bloom (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)
\Disease\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)
\Disease\trouble du développement\anomalie staturale\insuffisance staturale\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\syndrome de Bloom (trouble)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
syndrome de Bloom (trouble)	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
syndrome de Bloom (trouble)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de Bloom (trouble)	Pathological process (attribute)	Abnormal immune process (qualifier value)	true	Inferred relationship	Some	2
syndrome de Bloom (trouble)	interprète (attribut)	Height / growth measure	true	Inferred relationship	Some	4
syndrome de Bloom (trouble)	est un(e) (attribut)	Multisystem disorder A-B (navigational concept)	false	Inferred relationship	Some
syndrome de Bloom (trouble)	est un(e) (attribut)	Congenital immunodeficiency disease	true	Inferred relationship	Some
syndrome de Bloom (trouble)	est un(e) (attribut)	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Some
syndrome de Bloom (trouble)	est un(e) (attribut)	Multiple malformation syndrome, small stature, without skeletal dysplasia	true	Inferred relationship	Some
syndrome de Bloom (trouble)	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
syndrome de Bloom (trouble)	associé à (attribut)	anomalie chromosomique	true	Inferred relationship	Some	3
syndrome de Bloom (trouble)	est défini par la manifestation de (attribut)	Immune system finding	false	Inferred relationship	Some
syndrome de Bloom (trouble)	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de Bloom (trouble)	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
syndrome de Bloom (trouble)	survenue (attribut)	congénital	false	Inferred relationship	Some
syndrome de Bloom (trouble)	localisation d'une constatation (attribut)	structure du système immunitaire	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
1000451000172119	BSyn - Bloom syndrome	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
1230086015	BS - Bloom syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
386671000241118	syndrome de Bloom (trouble)	fr	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
7533010	Bloom syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
7534016	Congenital telangiectatic erythema syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
781458010	Bloom syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
954991000172111	syndrome de Bloom	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)