Pseudo-Hurler polydystrophy 65764006

SNOMED CT code

SNOMED code

65764006

name

Pseudo-Hurler polydystrophy

status

active

date introduced

2002-01-31

fully specified name(s)

Pseudo-Hurler polydystrophy (disorder)

synonyms

Pseudo-Hurler polydystrophy
Mucolipidosis III
Pseudo-Hurler disease
Pseudo-Hurler's disease

attributes - group1

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Finding site

Bone structure 272673000

Associated morphology

Dysplasia 25723000

parents

I-cell disease 70199000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
I-cell disease 70199000
Pseudo-Hurler polydystrophy 65764006

ancestors

sorted most to least specific

I-cell disease 70199000
Lipid storage disease 10741005
Disorder of glycoprotein metabolism 238045003
Dysostosis multiplex group 279081001
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Mucolipidosis 70528007
Autosomal recessive hereditary disorder 85995004
Disorder of lysosomal enzyme 23585005
Skeletal dysplasia 105986008
Hereditary disorder by system 363137000
Autosomal hereditary disorder 1899006
Disorder of lipid storage and metabolism 238017009
Metabolic bone disease 50279003
Congenital anomaly of skeletal bone 8447006
Lysosomal storage disease 28821000119102
Congenital anomaly of musculoskeletal system 73573004
Disorder of lipoprotein AND/OR lipid metabolism 48286001
Enzymopathy 78548001
Disorder of bone development 371521007
Storage disease 34420000
Inborn error of metabolism 86095007
Congenital malformation 276654001
Disorder of bone 76069003
Congenital disease 66091009
Hereditary metabolic disease 1821000146108
Developmental disorder 5294002
Disorder of skeletal system 88230002
Bone finding 118953000
Hereditary disease 32895009
Metabolic disease 75934005
Disorder of musculoskeletal system 928000
Genetic disease 782964007
Musculoskeletal finding 106028002
Disorder of body system 362965005
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

I-cell disease 70199000

Pseudo-Hurler polydystrophy 65764006

SNOMED CT code