Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT code

SNOMED code

732927000

name

Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome

status

active

date introduced

2017-07-31

fully specified name(s)

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

synonyms

Czeizel Losonci syndrome
Split hand, urinary anomalies, spina bifida syndrome
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome

attributes - group2

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Developmental failure of fusion 371520008

Finding site

Hand structure 85562004

attributes - group5

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Absence 418560003

Finding site

Entire finger 302541005

attributes - group4

Occurrence

Congenital 255399007

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Finding site

Neural tube structure 60271003

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Morphologically abnormal structure 49755003

Finding site

Urinary system structure 122489005

attributes - group3

Associated morphology

Developmental failure of fusion 371520008

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Structure of arch of vertebra 40265002

parents

Autosomal dominant hereditary disorder 11164009
Congenital cleft hand 13624003
Congenital malformation of the urinary system 253859003
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Hereditary disorder of nervous system 363235000
Hereditary disorder of the urinary system 363338001
Multiple malformation syndrome with limb defect as major feature 41443008
Spina bifida 67531005

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal dominant hereditary disorder 11164009
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Finding of limb structure 302293008
Disorder of limb 128605003
Disorder of digit 128597007
Congenital anomaly of digit 403855001
Adactyly 275348004
Ectrodactyly 81208006
Congenital cleft hand 13624003
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of the genitourinary system 42030000
Disorder of the urinary system 128606002
Congenital malformation of the urinary system 253859003
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Disorder of nervous system 118940003
Hereditary disorder of nervous system 363235000
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of body system 362965005
Hereditary disorder by system 363137000
Hereditary disorder of the urinary system 363338001
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Congenital malformation 276654001
Congenital malformation syndrome 400038003
Multiple system malformation syndrome 82354003
Multiple malformation syndrome with limb defect as major feature 41443008
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Vertebral column finding 119414006
Disorder of vertebral column 699699005
Spina bifida 67531005
Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Congenital cleft hand 13624003
Congenital malformation of the urinary system 253859003
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Hereditary disorder of nervous system 363235000
Hereditary disorder of the urinary system 363338001
Multiple malformation syndrome with limb defect as major feature 41443008
Spina bifida 67531005
Autosomal hereditary disorder 1899006
Congenital absence of finger 48301005
Disorder of the urinary system 128606002
Hereditary disorder by system 363137000
Multiple system malformation syndrome 82354003
Lesion of vertebra 13211000119109
Ectrodactyly 81208006
Genitourinary congenital anomalies 287085006
Neural tube defect 253098009
Disorder of vertebral column 699699005
Congenital anomaly of spine 74877002
Congenital anomaly of skeletal bone 8447006
Hereditary disease 32895009
Congenital anomaly of finger 20948006
Urinary system finding 106098005
Congenital malformation syndrome 400038003
Finding of vertebra 298385001
Adactyly 275348004
Congenital absence of hand 371199008
Congenital anomaly of lower trunk 363030001
Disorder of the genitourinary system 42030000
Congenital ectodermal defect 254154003
Congenital anomaly of vertebral region of back 699943005
Disorder of bone development 371521007
Congenital anomaly of nervous system 88425004
Congenital anomaly of musculoskeletal system 73573004
Genetic disease 782964007
Disorder of finger 128618006
Urogenital finding 118238000
Disorder of nervous system 118940003
Congenital anomaly of digit 403855001
Absence of hand 249750006
Congenital anomaly of hand 34111000
Congenital abnormality of lower limb and pelvic girdle 253937004
Vertebral column finding 119414006
Congenital anomaly of back 363025000
Congenital absence of part of upper limb 449682004
Congenital anomaly of trunk 78626001
Disorder of abdominopelvic segment of trunk 822988000
Disorder of embryonic structure 609521009
Disorder of spinal region 410730009
Disorder of bone 76069003
Disorder of hand 118933004
Finding of abdominopelvic segment of trunk 822987005
Bone finding 118953000
Disorder of digit 128597007
Finding of finger 313133004
Partial congenital absence of limb 60220000
Congenital absence of upper limb 360526007
Disorder of trunk 128121009
Finding of spinal region 298379008
Disorder of skeletal system 88230002
Disorder of back 33308003
Finding of trunk structure 302292003
Finding of digit of hand 313132009
Disorder of musculoskeletal system 928000
Absence of upper limb 449669007
Congenital anomaly of upper limb 66510004
Finding of back 414252009
Finding of hand region 116311003
Disorder of body system 362965005
Musculoskeletal finding 106028002
Disorder of upper limb 118947000
Congenital anomaly of limb 60475009
Finding of upper limb 116307009
Congenital malformation 276654001
Disorder of limb 128605003
Finding of limb structure 302293008
Developmental disorder 5294002
Congenital disease 66091009
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000

SNOMED CT code