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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
5401216012 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by 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
5401217015 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by 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
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 Only initial character case insensitive (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 Only initial character 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
5401216012 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterized by 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
5401217015 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome is characterised by 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
3388421001000117 Radiushypoplasie - triphalangeale Daumen - Hypospadie - Progenie - maxilläres Diastema de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
923521000172115 syndrome de Schmitt-Gillenwater-Kelly fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
923521000172115 syndrome de Schmitt-Gillenwater-Kelly fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
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 Switzerland NRC maintained Module
3388421001000117 Radiushypoplasie - triphalangeale Daumen - Hypospadie - Progenie - maxilläres Diastema de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 8
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Structure of urethral meatus false Inferred relationship Existential restriction modifier (core metadata concept) 8
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Hypoplasia false Inferred relationship Existential restriction modifier (core metadata concept) 7
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Bone structure of radius false Inferred relationship Existential restriction modifier (core metadata concept) 7
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 5
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Digit structure false Inferred relationship Existential restriction modifier (core metadata concept) 9
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Tooth structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Diastema of teeth false Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Congenital hypoplasia of radius true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Triphalangeal thumb true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Digestive system hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Hypospadias (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Thumb structure false Inferred relationship Existential restriction modifier (core metadata concept) 6
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 7
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 8
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 9
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Thumb structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Tooth disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Generalized spacing of maxillary teeth (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Structure of maxillary teeth true Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Has interpretation Increased true Inferred relationship Existential restriction modifier (core metadata concept) 2
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Interprets Spacing of teeth true Inferred relationship Existential restriction modifier (core metadata concept) 2
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Bone structure of radius true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Congenital malposition false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Thumb structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Structure of urethral meatus false Inferred relationship Existential restriction modifier (core metadata concept) 1
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Supernumerary structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Malposition (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Structure of urethral meatus true Inferred relationship Existential restriction modifier (core metadata concept) 4
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Finding site Bone structure of phalanx of thumb true Inferred relationship Existential restriction modifier (core metadata concept) 5
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Associated morphology Supernumerary structure true Inferred relationship Existential restriction modifier (core metadata concept) 5
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Hereditary disorder of tooth true Inferred relationship Existential restriction modifier (core metadata concept)
Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) Is a Disorder of digestive system specific to fetus OR newborn true Inferred relationship Existential restriction modifier (core metadata concept)
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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