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75979009: Johanson-Blizzard 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
126200014 Johanson-Blizzard syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
816648011 Johanson-Blizzard syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
126200014 Johanson-Blizzard syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
816648011 Johanson-Blizzard syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
816648011 Johanson-Blizzard syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3450561001000113 Johanson-Blizzard-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984941000172111 syndrome de Johanson-Blizzard fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
984941000172111 syndrome de Johanson-Blizzard fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3450561001000113 Johanson-Blizzard-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
Johanson-Blizzard syndrome Is a Multiple system malformation syndrome true Inferred relationship Existential restriction modifier (core metadata concept)
Johanson-Blizzard syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Existential restriction modifier (core metadata concept)
Johanson-Blizzard syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Johanson-Blizzard syndrome Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept)
Johanson-Blizzard syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Johanson-Blizzard syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Johanson-Blizzard syndrome Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Johanson-Blizzard syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Johanson-Blizzard syndrome Finding site Ectoderm structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Johanson-Blizzard syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Finding site Ectoderm structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Johanson-Blizzard syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Johanson-Blizzard syndrome Finding site Tooth structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Johanson-Blizzard syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 3
Johanson-Blizzard syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Johanson-Blizzard syndrome Finding site Hair structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Is a False Johanson-Blizzard syndrome Inferred relationship Existential restriction modifier (core metadata concept)
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated with True Johanson-Blizzard syndrome Inferred relationship Existential restriction modifier (core metadata concept) 2

This concept is not in any reference sets

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