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


Status: current, Primitive. Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3304703014 Schmitt Gillenwater Kelly syndrome en Synonym Active Case sensitive SNOMED CT core
3311178015 Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3311179011 Radial hypoplasia and triphalangeal thumb with hypospadias and maxillary diastema syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Schmitt Gillenwater Kelly syndrome Pathological process Pathological developmental process false Inferred relationship Some 1
Schmitt Gillenwater Kelly syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Schmitt Gillenwater Kelly syndrome Associated morphology Congenital 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 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 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
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 6
Schmitt Gillenwater Kelly syndrome Associated morphology Congenital 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 false Inferred relationship Some 7
Schmitt Gillenwater Kelly syndrome Associated morphology Supernumerary structure false Inferred relationship Some 9
Schmitt Gillenwater Kelly syndrome Associated morphology Congenital 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 Diastema of teeth 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 Inherited disorder of connective tissue false Inferred relationship Some
Schmitt Gillenwater Kelly syndrome Is a Digestive system hereditary 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 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 Generalised spacing of maxillary teeth 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 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 true Inferred relationship Some 3
Schmitt Gillenwater Kelly syndrome Pathological process Pathological developmental process true Inferred relationship Some 3

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

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