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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
984941000172111 syndrome de Johanson-Blizzard fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)
907711000172118 JBS - Johanson-Blizzard-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)
929611000172112 syndroom van Johanson-Blizzard nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)


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 Some
Johanson-Blizzard syndrome Is a Ectodermal dysplasia with hair-tooth defects true Inferred relationship Some
Johanson-Blizzard syndrome Associated morphology Dysplasia true Inferred relationship Some 1
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Some 1
Johanson-Blizzard syndrome Occurrence Congenital false Inferred relationship Some
Johanson-Blizzard syndrome Associated morphology Congenital anomaly false Inferred relationship Some
Johanson-Blizzard syndrome Associated morphology Congenital malformation false Inferred relationship Some
Johanson-Blizzard syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Some 1
Johanson-Blizzard syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 1
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Some 2
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Some 2
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Some 3
Johanson-Blizzard syndrome Associated morphology Developmental anomaly false Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology Congenital dysplasia false Inferred relationship Some 3
Johanson-Blizzard syndrome Finding site Ectoderm structure false Inferred relationship Some 3
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Some 1
Johanson-Blizzard syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Johanson-Blizzard syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Johanson-Blizzard syndrome Finding site Ectoderm structure true Inferred relationship Some 1
Johanson-Blizzard syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Johanson-Blizzard syndrome Finding site Tooth structure true Inferred relationship Some 3
Johanson-Blizzard syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Johanson-Blizzard syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Johanson-Blizzard syndrome Finding site Hair structure (body structure) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Is a False Johanson-Blizzard syndrome Inferred relationship Some
Aplasia cutis in Johanson-Blizzard syndrome (disorder) Associated with True Johanson-Blizzard syndrome Inferred relationship Some 2

This concept is not in any reference sets

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