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716092007: syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie (trouble)


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
749231000241116 syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie (trouble) fr Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
923521000172115 syndrome de Schmitt-Gillenwater-Kelly fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
999301000172110 syndrome d'hypoplasie du radius-pouces triphalangés-hypospadias-progénie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Common French translation module (core metadata concept)
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


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
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 morphologie associée (attribut) Congenital malposition (morphologic abnormality) false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) pouce false Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) Structure of urethral meatus false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Malposition (morphologic abnormality) true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) Structure of urethral meatus true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) phalange du pouce (structure corporelle) true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Supernumerary structure true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Hereditary disorder of tooth true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 6
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Congenital malposition (morphologic abnormality) false Inferred relationship Some 8
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) Structure of urethral meatus false Inferred relationship Some 8
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Hypoplasia (morphologic abnormality) false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) radius (structure corporelle) false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Congenital malposition (morphologic abnormality) false Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) Digit structure false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) dent (structure corporelle) false Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Diastema of teeth false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Congenital hypoplasia of radius true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Triphalangeal thumb true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Digestive system hereditary disorder false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Hereditary disorder of the urinary system true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Hypospadias (disorder) true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital true Inferred relationship Some 5
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) pouce false Inferred relationship Some 6
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital false Inferred relationship Some 8
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Supernumerary structure false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) pouce false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Tooth disorder false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome est un(e) (attribut) Generalized spacing of maxillary teeth (finding) true Inferred relationship Some
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) Structure of maxillary teeth true Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome a pour interprétation (attribut) augmenté true Inferred relationship Some 2
Schmitt Gillenwater Kelly syndrome interprète (attribut) Spacing of teeth (observable entity) true Inferred relationship Some 2
Schmitt Gillenwater Kelly syndrome morphologie associée (attribut) Hypoplasia (morphologic abnormality) true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome survenue (attribut) congénital true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome localisation d'une constatation (attribut) radius (structure corporelle) true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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