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732927000: Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3467477010 Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467478017 Czeizel Losonci syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3467479013 Split hand, urinary anomalies, spina bifida syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467481010 Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3467480011 An exceedingly rare severe congenital genetic malformation disorder with characteristics of split hand/split foot, hydronephrosis, and spina bifida. Spinal and skeletal manifestations were thoracolumbar scoliosis, spina bifida (spina bifida occulta or spina bifida cystic), Bochdalek diaphragmatic hernia and radial defects. There have been no further descriptions in the literature since 1987. 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
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 4
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 4
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital true Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) main true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Urinary system structure true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Structure of arch of vertebra true Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Neural tube structure true Inferred relationship Some 4
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Absence (morphologic abnormality) true Inferred relationship Some 5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Entire finger true Inferred relationship Some 5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Congenital anomaly of skeletal bone false Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Autosomal dominant hereditary disorder true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Congenital cleft hand true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Spina bifida true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Congenital malformation of the urinary system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Connective tissue hereditary disorder false Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of musculoskeletal system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of nervous system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) est un(e) (attribut) Hereditary disorder of the urinary system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 9
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Congenital absence false Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Entire digit false Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 11
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) survenue (attribut) congénital false Inferred relationship Some 11
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) système nerveux false Inferred relationship Some 11
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 9
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Urinary system structure false Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) main false Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Neural tube structure false Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) localisation d'une constatation (attribut) Structure of arch of vertebra false Inferred relationship Some 9

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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