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75979009: Johanson-Blizzard-syndroom (aandoening)


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
6659261000146118 syndroom van Johanson-Blizzard nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6659271000146112 Johanson-Blizzard-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6659741000146112 JBS nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8346351000146119 syndroom van hypoplasie van neusvleugels, doofheid, hypothyroïdie, dwerggroei, malabsorptie en afwezigheid van blijvende gebitselementen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10668681000146118 Johanson-Blizzard-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
13082771000146115 Erfelijke aandoening gekenmerkt door een typisch uiterlijk, een groeistoornis, een slecht werkende alvlees- en schildklier en aangeboren doofheid. nl Definition Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained 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 congenitale anomalie (afwijkende morfologie) false Inferred relationship Some
Johanson-Blizzard syndrome Associated morphology Congenital malformation false Inferred relationship Some
Johanson-Blizzard syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Johanson-Blizzard syndrome Finding site Skin structure false Inferred relationship Some 1
Johanson-Blizzard syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) 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 gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 2
Johanson-Blizzard syndrome Associated morphology congenitale dysplasie (afwijkende morfologie) 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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