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722296002: Book syndrome (disorder)


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
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) morphologie associée (attribut) structure anormale sur le plan morphologique false Inferred relationship Some 2
Book syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure true Inferred relationship Some 1
Book syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 1
Book syndrome (disorder) survenue (attribut) congénital 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) morphologie associée (attribut) dysplasie true Inferred relationship Some 1
Book syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Book syndrome (disorder) est un(e) (attribut) Ectodermal syndrome with hair-tooth-sweating defects (disorder) true Inferred relationship Some
Book syndrome (disorder) localisation d'une constatation (attribut) Hair structure (body structure) true Inferred relationship Some 4
Book syndrome (disorder) a pour interprétation (attribut) anormal true Inferred relationship Some 2
Book syndrome (disorder) interprète (attribut) Sweating, function (observable entity) true Inferred relationship Some 2
Book syndrome (disorder) localisation d'une constatation (attribut) dent (structure corporelle) true Inferred relationship Some 3
Book syndrome (disorder) est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Book syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique 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) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Book syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with hair-tooth defects false Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) Ectodermal dysplasia with sweating defect false Inferred relationship Some
Book syndrome (disorder) est un(e) (attribut) Hereditary disorder of the integument true Inferred relationship Some
Book syndrome (disorder) morphologie associée (attribut) Congenital dysplasia false Inferred relationship Some 2
Book syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 2
Book syndrome (disorder) localisation d'une constatation (attribut) Ectoderm structure false Inferred relationship Some 2
Book syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 3
Book syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Book syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 3
Book syndrome (disorder) localisation d'une constatation (attribut) structure de la peau false Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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