FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.24  |  FHIR Version n/a  User: [n/a]

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


Status: current, Primitive. 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 Case insensitive SNOMED CT core
3467478017 Czeizel Losonci syndrome en Synonym Active Case sensitive SNOMED CT core
3467479013 Split hand, urinary anomalies, spina bifida syndrome en Synonym Active Case insensitive SNOMED CT core
3467481010 Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Czeizel Losonci syndrome Occurrence Congenital true Inferred relationship Some 2
Czeizel Losonci syndrome Occurrence Congenital true Inferred relationship Some 5
Czeizel Losonci syndrome Pathological process Pathological developmental process true Inferred relationship Some 5
Czeizel Losonci syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Czeizel Losonci syndrome Occurrence Congenital true Inferred relationship Some 4
Czeizel Losonci syndrome Occurrence Congenital true Inferred relationship Some 1
Czeizel Losonci syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 4
Czeizel Losonci syndrome Pathological process Pathological developmental process true Inferred relationship Some 4
Czeizel Losonci syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Czeizel Losonci syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 3
Czeizel Losonci syndrome Pathological process Pathological developmental process true Inferred relationship Some 3
Czeizel Losonci syndrome Occurrence Congenital true Inferred relationship Some 3
Czeizel Losonci syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Czeizel Losonci syndrome Associated morphology Developmental failure of fusion true Inferred relationship Some 2
Czeizel Losonci syndrome Finding site Hand structure true Inferred relationship Some 2
Czeizel Losonci syndrome Finding site Urinary system structure true Inferred relationship Some 1
Czeizel Losonci syndrome Finding site Structure of arch of vertebra true Inferred relationship Some 3
Czeizel Losonci syndrome Finding site Neural tube structure true Inferred relationship Some 4
Czeizel Losonci syndrome Associated morphology Absence true Inferred relationship Some 5
Czeizel Losonci syndrome Finding site Entire finger true Inferred relationship Some 5
Czeizel Losonci syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Czeizel Losonci syndrome Is a Congenital anomaly of skeletal bone false Inferred relationship Some
Czeizel Losonci syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Some
Czeizel Losonci syndrome Is a Congenital cleft hand true Inferred relationship Some
Czeizel Losonci syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Czeizel Losonci syndrome Is a Spina bifida true Inferred relationship Some
Czeizel Losonci syndrome Is a Congenital malformation of the urinary system true Inferred relationship Some
Czeizel Losonci syndrome Is a Inherited disorder of connective tissue false Inferred relationship Some
Czeizel Losonci syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Czeizel Losonci syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Czeizel Losonci syndrome Is a Hereditary disorder of the urinary system true Inferred relationship Some
Czeizel Losonci syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 6
Czeizel Losonci syndrome Occurrence Congenital false Inferred relationship Some 6
Czeizel Losonci syndrome Occurrence Congenital false Inferred relationship Some 7
Czeizel Losonci syndrome Associated morphology Developmental abnormality false Inferred relationship Some 8
Czeizel Losonci syndrome Occurrence Congenital false Inferred relationship Some 8
Czeizel Losonci syndrome Occurrence Congenital false Inferred relationship Some 9
Czeizel Losonci syndrome Associated morphology Congenital absence false Inferred relationship Some 10
Czeizel Losonci syndrome Occurrence Congenital false Inferred relationship Some 10
Czeizel Losonci syndrome Finding site Entire digit false Inferred relationship Some 10
Czeizel Losonci syndrome Associated morphology Developmental abnormality false Inferred relationship Some 11
Czeizel Losonci syndrome Occurrence Congenital false Inferred relationship Some 11
Czeizel Losonci syndrome Finding site Structure of nervous system false Inferred relationship Some 11
Czeizel Losonci syndrome Associated morphology Developmental failure of fusion false Inferred relationship Some 9
Czeizel Losonci syndrome Finding site Urinary system structure false Inferred relationship Some 8
Czeizel Losonci syndrome Associated morphology Developmental abnormality false Inferred relationship Some 7
Czeizel Losonci syndrome Finding site Hand structure false Inferred relationship Some 6
Czeizel Losonci syndrome Finding site Neural tube structure false Inferred relationship Some 7
Czeizel Losonci syndrome Finding site Structure of arch of vertebra false Inferred relationship Some 9

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

Back to Start