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4434006: Bloom syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module
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
1230086015 BS - Bloom syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
7533010 Bloom syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
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 Only initial character case insensitive (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 Only initial character 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
1230086015 BS - Bloom syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
1230086015 BS - Bloom syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3407831001000112 Bloom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954991000172111 syndrome de Bloom fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1000451000172119 BSyn - Bloom syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
954991000172111 syndrome de Bloom fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
1000451000172119 BSyn - Bloom syndrome fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3407831001000112 Bloom-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

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 (core metadata concept)
Bloom syndrome Is a Congenital immunodeficiency disease true Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Is a Immunodeficiency associated with chromosomal abnormality true Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Is a Multiple malformation syndrome, small stature, without skeletal dysplasia (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Finding site Structure of immune system (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Associated with Chromosomal disorder (disorder) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Bloom syndrome Has definitional manifestation Immune system finding false Inferred relationship Existential restriction modifier (core metadata concept)
Bloom syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bloom syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Bloom syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bloom syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Bloom syndrome Pathological process (attribute) Abnormal immune process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Bloom syndrome Interprets Height / growth measure (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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