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722296002: Böök-syndroom (aandoening)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3331484017 Book syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core
3331485016 Book syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
6355521000146119 syndroom van Böök nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
6355531000146117 Böök-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
10662691000146119 Böök-syndroom (aandoening) nl Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
3331486015 Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case. The syndrome has characteristics of premolar aplasia, hyperhidrosis, and premature graying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777425014 Book syndrome is a rare autosomal dominant ectodermal dysplasia syndrome reported in a Swedish family (25 cases from 4 generations), and one isolated case. The syndrome has characteristics of premolar aplasia, hyperhidrosis, and premature greying of the hair. Additional features reported in the isolated case include a narrow palate, hypoplastic nails, eyebrow anomalies, a unilateral simian crease, and poorly formed dermatoglyphics. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Book syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Book syndrome (disorder) Is a Ectodermal dysplasia with hair-tooth defects false Inferred relationship Some
Book syndrome (disorder) Is a Ectodermal dysplasia with sweating defect false Inferred relationship Some
Book syndrome (disorder) Is a Hereditary disorder of the integument true Inferred relationship Some
Book syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 2
Book syndrome (disorder) Occurrence Congenital false Inferred relationship Some 2
Book syndrome (disorder) Finding site Ectoderm structure false Inferred relationship Some 2
Book syndrome (disorder) Associated morphology gebrekkige ontwikkeling (afwijkende morfologie) false Inferred relationship Some 3
Book syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Book syndrome (disorder) Finding site Skin structure false Inferred relationship Some 3
Book syndrome (disorder) Finding site Skin structure false Inferred relationship Some 2
Book syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) false Inferred relationship Some 2
Book syndrome (disorder) Finding site Ectoderm structure true Inferred relationship Some 1
Book syndrome (disorder) Associated morphology congenitale dysplasie (afwijkende morfologie) false Inferred relationship Some 1
Book syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Book syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Book syndrome (disorder) Pathological process (attribute) Pathological developmental process false Inferred relationship Some 2
Book syndrome (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Book syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Book syndrome (disorder) Is a Ectodermal syndrome with hair-tooth-sweating defects (disorder) true Inferred relationship Some
Book syndrome (disorder) Finding site Hair structure (body structure) true Inferred relationship Some 4
Book syndrome (disorder) Has interpretation Abnormal true Inferred relationship Some 2
Book syndrome (disorder) Interprets Sweating, function (observable entity) true Inferred relationship Some 2
Book syndrome (disorder) Finding site Tooth structure true Inferred relationship Some 3
Book syndrome (disorder) Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Book syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Book syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Book syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Book syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 4
Book syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Book syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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