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716092007: Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304703014 Schmitt Gillenwater Kelly syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3311178015 Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3311179011 Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3304704015 This syndrome has manifestation of symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. It has been described in eight patients (five females and three males) spanning generations of a family. The affected males also presented with hypospadias. The syndrome is inherited as an autosomal dominant trait. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3868211000052118 Schmitt-Gillenwater-Kellys syndrom sv Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 6
Schmitt Gillenwater Kelly syndrome Associated morphology medfödd malposition false Inferred relationship Some 8
Schmitt Gillenwater Kelly syndrome Finding site Structure of urethral meatus false Inferred relationship Some 8
Schmitt Gillenwater Kelly syndrome Associated morphology Hypoplasia false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome Finding site Bone structure of radius (body structure) false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome Associated morphology medfödd malposition false Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Finding site Digit structure false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome Finding site Tooth structure false Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a tandmellanrum false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Congenital hypoplasia of radius true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Triphalangeal thumb true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Digestive system hereditary disorder (disorder) false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Hereditary disorder of the urinary system true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Hypospadias (disorder) true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Occurrence Congenital true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Finding site Thumb structure false Inferred relationship Some 6
Schmitt Gillenwater Kelly syndrome Occurrence Congenital false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome Occurrence Congenital false Inferred relationship Some 8
Schmitt Gillenwater Kelly syndrome Occurrence Congenital false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Occurrence Congenital false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Finding site Thumb structure false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Is a Tooth disorder false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Generalized spacing of maxillary teeth (finding) true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Finding site Structure of maxillary teeth true Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Has interpretation Increased true Inferred relationship Some 2
Schmitt Gillenwater Kelly syndrome Interprets Spacing of teeth (observable entity) true Inferred relationship Some 2
Schmitt Gillenwater Kelly syndrome Associated morphology Hypoplasia true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome Occurrence Congenital true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome Finding site Bone structure of radius (body structure) true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome Pathological process (attribute) Pathological developmental process false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Associated morphology medfödd malposition false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Finding site Thumb structure false Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Finding site Structure of urethral meatus false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Occurrence Congenital true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Associated morphology Malposition (morphologic abnormality) true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Finding site Structure of urethral meatus true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Finding site Bone structure of phalanx of thumb true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome 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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