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717261006: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3308873013 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3308874019 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401537017 A form of congenital adrenal hyperplasia (CAH) characterized by simple virilizing or salt wasting forms that can manifest with abnormal genital development with variable levels of virilization in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401538010 A form of congenital adrenal hyperplasia (CAH) characterised by simple virilising or salt wasting forms that can manifest with abnormal genital development with variable levels of virilisation in females and with adrenal insufficiency in both sexes, and that presents with dehydration and hypoglycaemia (which can be lethal if left untreated) in the neonatal period, as well as hyperandrogenism. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


2 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Due to 21-hydroxylase deficiency false Inferred relationship Some
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Is a Congenital adrenal hyperplasia true Inferred relationship Some
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Associated morphology Congenital hyperplasia false Inferred relationship Some 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Occurrence Congenital false Inferred relationship Some 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Finding site Adrenal cortex structure false Inferred relationship Some 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Due to Deficiency of steroid 21-monooxygenase true Inferred relationship Some 2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Finding site Adrenal cortex structure true Inferred relationship Some 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Occurrence Congenital true Inferred relationship Some 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Associated morphology Hyperplasia true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Steroid 21-monooxygenase deficiency, simple virilising type Is a True Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Is a True Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (disorder) Inferred relationship Some

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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