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722296002: Book syndrome (disorder)


Status: current, Primitive. 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 Case sensitive SNOMED CT core
3331485016 Book syndrome en Synonym Active Case sensitive 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 Case sensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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