Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT code

SNOMED code

724146008

name

Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

status

active

date introduced

2017-07-31

fully specified name(s)

Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria (disorder)

synonyms

Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria

attributes - group1

Occurrence

Congenital 255399007

Finding site

Bone structure 272673000

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

attributes - group3

Finding site

Cartilage structure 771314001

Occurrence

Congenital 255399007

Pathological process

Pathological developmental process 308490002

Associated morphology

Dysplasia 25723000

attributes - group4

Occurrence

Congenital 255399007

Finding site

Endocrine structure 113331007

attributes - group5

Occurrence

Congenital 255399007

Finding site

Central nervous system structure 21483005

parents

D-2(OH) glutaric aciduria 237960000
Enchondromatosis 268274005
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Metabolic bone disease 50279003

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
2-hydroxyglutaric aciduria 698870008
D-2(OH) glutaric aciduria 237960000
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Cartilage finding 118954006
Cartilage disorder 50927007
Osteochondropathy 77881008
Enchondromatosis 268274005
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Disorder of connective tissue 105969002
Connective tissue hereditary disorder 363045008
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT Concept 138875005
Clinical finding 404684003
Musculoskeletal finding 106028002
Disorder of musculoskeletal system 928000
Hereditary disorder of musculoskeletal system 363212003
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Metabolic bone disease 50279003
Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

ancestors

sorted most to least specific

D-2(OH) glutaric aciduria 237960000
Enchondromatosis 268274005
Connective tissue hereditary disorder 363045008
Developmental hereditary disorder 363070008
Hereditary disorder of musculoskeletal system 363212003
Metabolic bone disease 50279003
2-hydroxyglutaric aciduria 698870008
Disorganized development of cartilaginous and fibrous components of the skeleton 254140006
Osteochondropathy 77881008
Congenital anomaly of skeletal bone 8447006
Disorder of neurometabolic regulation 16279005
Skeletal dysplasia 105986008
Autosomal hereditary disorder 1899006
Hereditary disorder of endocrine system 363104002
Hereditary disorder of nervous system 363235000
Disorder of bone development 371521007
Congenital anomaly of cartilage 67988000
Metabolic disease 75934005
Congenital anomaly of musculoskeletal system 73573004
Hereditary disorder by system 363137000
Functional disease of the CNS with neuroendocrine disturbance 81682002
Cartilage disorder 50927007
Congenital connective tissue disorder 363039000
Disorder of bone 76069003
Congenital malformation 276654001
Hereditary disease 32895009
Disorder of endocrine system 362969004
Disorder of the central nervous system 23853001
Cartilage finding 118954006
Disorder of skeletal system 88230002
Bone finding 118953000
Musculoskeletal and connective tissue disorder 312225001
Developmental disorder 5294002
Disorder of connective tissue 105969002
Genetic disease 782964007
Disorder of nervous system 118940003
Congenital disease 66091009
Disorder of musculoskeletal system 928000
Central nervous system finding 246556002
Disorder of body system 362965005
Musculoskeletal finding 106028002
Disease 64572001
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Congenital disease 66091009

2-hydroxyglutaric aciduria 698870008

D-2(OH) glutaric aciduria 237960000

Metaphyseal chondromatosis co-occurrent with D-2 hydroxyglutaric aciduria 724146008

SNOMED CT code