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75979009: Johanson-Blizzard syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
126200014 Johanson-Blizzard syndrome en Synonym Active Case sensitive SNOMED CT core
816648011 Johanson-Blizzard syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Johanson-Blizzard syndrome Occurrence Congenital true Inferred relationship Some 1
Johanson-Blizzard syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Johanson-Blizzard syndrome Pathological process 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 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 true Inferred relationship Some 3
Johanson-Blizzard syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Johanson-Blizzard syndrome Finding site Hair structure true Inferred relationship Some 2
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 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 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 abnormality 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 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

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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