Cholesterol monooxygenase (side-chain cleaving) deficiency 44231009

SNOMED CT code

SNOMED code

44231009

name

Cholesterol monooxygenase (side-chain cleaving) deficiency

status

active

date introduced

2002-01-31

fully specified name(s)

Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)

synonyms

Defective synthesis of cholesterol desmolase
Cholesterol monooxygenase (side-chain cleaving) deficiency
Cholesterol desmolase deficiency
20,22-Desmolase deficiency
Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Hyperplasia 76197007

Occurrence

Congenital 255399007

Finding site

Adrenal cortex structure 68594002

parents

CAH - desmolase deficiency 237755009
Enzymopathy 78548001
Inborn error of metabolism 86095007

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Disorder of steroid metabolism 28710006
Adrenal virilism 271077003
CAH - desmolase deficiency 237755009
Cholesterol monooxygenase (side-chain cleaving) deficiency 44231009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Enzymopathy 78548001
Cholesterol monooxygenase (side-chain cleaving) deficiency 44231009

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Congenital disease 66091009
Inborn error of metabolism 86095007
Cholesterol monooxygenase (side-chain cleaving) deficiency 44231009

ancestors

sorted most to least specific

CAH - desmolase deficiency 237755009
Enzymopathy 78548001
Inborn error of metabolism 86095007
Congenital adrenal hyperplasia 237751000
Hereditary metabolic disease 1821000146108
Adrenal virilism 271077003
Adrenocortical hyperplasia 237777008
Disorder of steroid metabolism 28710006
Adrenogenital disorder 267395000
Developmental hereditary disorder 363070008
Hereditary disorder of endocrine system 363104002
Congenital anomaly of adrenal gland 60637003
Autosomal recessive hereditary disorder 85995004
Disorder of adrenal cortex 129636003
Metabolic disease 75934005
Autosomal hereditary disorder 1899006
Adrenal hyperplasia 419920004
Hereditary disorder by system 363137000
Congenital anomaly of abdomen 363024001
Congenital anomaly of endocrine gland 4184009
Disorder of adrenal gland 30171000
Hereditary disease 32895009
Congenital anomaly of lower trunk 363030001
Abdominal organ finding 249561001
Genetic disease 782964007
Disorder of endocrine system 362969004
Disorder of retroperitoneum 734045002
Congenital abnormality of lower limb and pelvic girdle 253937004
Congenital anomaly of trunk 78626001
Viscus structure finding 406123005
Disorder of body system 362965005
Disorder of abdomen 118948005
Congenital malformation 276654001
Finding of abdomen 609624008
Congenital disease 66091009
Developmental disorder 5294002
Disorder of abdominopelvic segment of trunk 822988000
Finding of abdominopelvic segment of trunk 822987005
Disorder of trunk 128121009
Disease 64572001
Finding of trunk structure 302292003
Clinical finding 404684003
SNOMED CT Concept 138875005

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SNOMED CT Concept 138875005

Clinical finding 404684003

Disease 64572001

Metabolic disease 75934005

Disorder of steroid metabolism 28710006

Adrenal virilism 271077003

CAH - desmolase deficiency 237755009

Cholesterol monooxygenase (side-chain cleaving) deficiency 44231009

SNOMED CT code