RAPADILINO syndrome 702413000

SNOMED CT code

SNOMED code

702413000

name

RAPADILINO syndrome

status

active

date introduced

2014-07-31

fully specified name(s)

RAPADILINO syndrome (disorder)

synonyms

RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence
RAPADILINO syndrome
RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhoea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

parents

Developmental hereditary disorder 363070008
Multiple malformation syndrome with limb defect as major feature 41443008
Autosomal recessive hereditary disorder 85995004

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
RAPADILINO syndrome 702413000

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
RAPADILINO syndrome 702413000

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Genetic disease 782964007
Hereditary disease 32895009
Autosomal hereditary disorder 1899006
Autosomal recessive hereditary disorder 85995004
RAPADILINO syndrome 702413000

ancestors

sorted most to least specific

Developmental hereditary disorder 363070008
Multiple malformation syndrome with limb defect as major feature 41443008
Autosomal recessive hereditary disorder 85995004
Multiple system malformation syndrome 82354003
Autosomal hereditary disorder 1899006
Hereditary disease 32895009
Congenital malformation syndrome 400038003
Genetic disease 782964007
Congenital malformation 276654001
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

Developmental disorder 5294002

Developmental hereditary disorder 363070008

RAPADILINO syndrome 702413000

SNOMED CT code