Deficiency of steroid 17-alpha-monooxygenase 124220008

SNOMED CT code

SNOMED code

124220008

name

Deficiency of steroid 17-alpha-monooxygenase

status

active

date introduced

2002-01-31

fully specified name(s)

Deficiency of steroid 17-alpha-monooxygenase (disorder)

synonyms

Deficiency of steroid 17-alpha-hydroxylase
Deficiency of steroid 17-alpha-monooxygenase
Congenital adrenal hyperplasia, type 5
Adrenogenital disorder due to 17-alpha-hydroxylase deficiency
Steroid 17-alpha-monooxygenase deficiency
CAH - 17-alpha-hydroxysteroid dehydrogenase deficiency
CAH - 17-hydroxylase deficiency
17 alpha-Hydroxylase deficiency

attributes - group1

Pathological process

Pathological developmental process 308490002

Associated morphology

Hyperplasia 76197007

Occurrence

Congenital 255399007

Finding site

Adrenal cortex structure 68594002

parents

Specific enzyme deficiency 129456006
Congenital adrenal hyperplasia 237751000

hierarchies

a selection of possible paths

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Metabolic disease 75934005
Enzymopathy 78548001
Specific enzyme deficiency 129456006
Deficiency of steroid 17-alpha-monooxygenase 124220008

SNOMED CT Concept 138875005
Clinical finding 404684003
Disease 64572001
Developmental disorder 5294002
Developmental hereditary disorder 363070008
Congenital adrenal hyperplasia 237751000
Deficiency of steroid 17-alpha-monooxygenase 124220008

ancestors

sorted most to least specific

Specific enzyme deficiency 129456006
Congenital adrenal hyperplasia 237751000
Enzymopathy 78548001
Adrenocortical hyperplasia 237777008
Adrenogenital disorder 267395000
Developmental hereditary disorder 363070008
Hereditary disorder of endocrine system 363104002
Congenital anomaly of adrenal gland 60637003
Autosomal recessive hereditary disorder 85995004
Metabolic disease 75934005
Disorder of adrenal cortex 129636003
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
Developmental disorder 5294002
Disorder of abdominopelvic segment of trunk 822988000
Congenital disease 66091009
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

Enzymopathy 78548001

Specific enzyme deficiency 129456006

Deficiency of steroid 17-alpha-monooxygenase 124220008

SNOMED CT code