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4434006: Bloom syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Multiple malformation syndrome, small stature, without skeletal dysplasia\Bloom syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

7533010 Bloom syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

7534016 Congenital telangiectatic erythema syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

781458010 Bloom syndrome (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module

1230086015 BS - Bloom syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Bloom syndrome	Is a	Multisystem disorder A-B	false	Inferred relationship	Existential restriction modifier
Bloom syndrome	Is a	Congenital immunodeficiency disease	true	Inferred relationship	Existential restriction modifier
Bloom syndrome	Is a	Immunodeficiency associated with chromosomal abnormality	true	Inferred relationship	Existential restriction modifier
Bloom syndrome	Is a	Multiple malformation syndrome, small stature, without skeletal dysplasia	true	Inferred relationship	Existential restriction modifier
Bloom syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier
Bloom syndrome	Finding site	Structure of immune system	false	Inferred relationship	Existential restriction modifier
Bloom syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier
Bloom syndrome	Associated with	Chromosomal disorder	true	Inferred relationship	Existential restriction modifier	3
Bloom syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Existential restriction modifier
Bloom syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Bloom syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	1
Bloom syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Bloom syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Bloom syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Existential restriction modifier	2
Bloom syndrome	Interprets	Height / growth measure	true	Inferred relationship	Existential restriction modifier	4

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
7533010	Bloom syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
7534016	Congenital telangiectatic erythema syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
781458010	Bloom syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
1230086015	BS - Bloom syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module