FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

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
5403637016 Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterized by 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
5403638014 Czeizel-Losonci syndrome (CLS) is an exceedingly rare, severe, congenital genetic malformation disorder characterised by 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) Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Congenital cleft hand true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Spina bifida true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Congenital malformation of the urinary system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Hereditary disorder of nervous system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Hereditary disorder of the urinary system true Inferred relationship Some
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 9
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Entire digit false Inferred relationship Some 10
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 11
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital false Inferred relationship Some 11
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Structure of nervous system (body structure) false Inferred relationship Some 11
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) false Inferred relationship Some 9
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Urinary system structure (body structure) false Inferred relationship Some 8
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Developmental anomaly false Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Hand structure false Inferred relationship Some 6
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Neural tube structure false Inferred relationship Some 7
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Structure of arch of vertebra false Inferred relationship Some 9
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital 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) Occurrence Congenital true Inferred relationship Some 4
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) 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) Associated morphology 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) Occurrence Congenital true Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Developmental failure of fusion (morphologic abnormality) true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Hand structure true Inferred relationship Some 2
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Urinary system structure (body structure) true Inferred relationship Some 1
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Structure of arch of vertebra true Inferred relationship Some 3
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Neural tube structure true Inferred relationship Some 4
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Associated morphology Absence (morphologic abnormality) true Inferred relationship Some 5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Finding site Entire finger true Inferred relationship Some 5
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start