Autosomal dominant osteopetrosis type 2 725050005

SNOMED CT code

SNOMED code

725050005

name

Autosomal dominant osteopetrosis type 2

status

active

date introduced

2017-07-31

fully specified name(s)

Autosomal dominant osteopetrosis type 2 (disorder)

synonyms

Autosomal dominant osteopetrosis type 2
Albers Schonberg osteopetrosis

attributes - group1

Associated morphology

Morphologically abnormal structure 49755003

Pathological process

Pathological developmental process 308490002

Occurrence

Congenital 255399007

Finding site

Bone structure 272673000

attributes - group2

Has interpretation

Below reference range 281300000

Interprets

Osteoclast turnover rate 43857005

attributes - group3

Clinical course

Progressive 255314001

parents

Autosomal dominant hereditary disorder 11164009
Osteopetrosis 1926006

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
Autosomal dominant osteopetrosis type 2 725050005

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Chronic disease 27624003
Chronic disease of musculoskeletal system 128237006
Osteopetrosis 1926006
Autosomal dominant osteopetrosis type 2 725050005

ancestors

sorted most to least specific

Autosomal dominant hereditary disorder 11164009
Osteopetrosis 1926006
Autosomal hereditary disorder 1899006
Chronic disease of musculoskeletal system 128237006
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Congenital anomaly of skeletal bone 8447006
Chronic disease 27624003
Hereditary disorder by system 363137000
Disorder of bone development 371521007
Congenital anomaly of musculoskeletal system 73573004
Hereditary disease 32895009
Congenital malformation 276654001
Disorder of bone 76069003
Genetic disease 782964007
Developmental disorder 5294002
Bone finding 118953000
Congenital disease 66091009
Disorder of skeletal system 88230002
Disorder of musculoskeletal system 928000
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

Genetic disease 782964007

Hereditary disease 32895009

Autosomal hereditary disorder 1899006

Autosomal dominant hereditary disorder 11164009

Autosomal dominant osteopetrosis type 2 725050005

SNOMED CT code