Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form, salt wasting

Preferred Label : Congenital adrenal hyperplasia due to 21-hydroxylase deficiency, classic form, salt wasting;

ICD-11 definition : This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 21-hydroxylase deficiency, classic form, salt wasting.;

Details

Origin ID

1057771841;

UMLS CUI

C0268291;

Currated CISMeF NLP mapping
- 21 hydroxylase deficiency with salt wasting [Disease (Nov.)]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form [ORDO Disease]
- Steroid 21-monooxygenase deficiency, salt wasting type (disorder) [SNOMED CT concept]
- steroid 21-monooxygenase deficiency, salt wasting type [SNOMED Notion]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- 21 hydroxylase deficiency with salt wasting [Disease (Nov.)]
- Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form [ORDO Disease]
- Steroid 21-monooxygenase deficiency, salt wasting type (disorder) [SNOMED CT concept]
- steroid 21-monooxygenase deficiency, salt wasting type [SNOMED Notion]

Keyword's position in hierarchy(ies) :

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