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71578002: Steroid 21-monooxygenase deficiency, salt wasting type (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
118912012 Steroid 21-monooxygenase deficiency, salt wasting type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
118913019 Congenital adrenal hyperplasia, type 2 en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
200220011 21-hydroxylase deficiency, salt wasting type en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
811759010 Steroid 21-monooxygenase deficiency, salt wasting type (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
7105161000241119 hyperplasie congénitale des surrénales de type 2 fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7105171000241110 HCS (hyperplasie congénitale des surrénales) de type 2 fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
7105181000241112 déficit en 21-hydroxylase, forme avec perte de sel fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Steroid 21-monooxygenase deficiency, salt wasting type Is a Salt-losing congenital adrenal hyperplasia true Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Finding site Adrenal cortex structure false Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Finding site Entire endocrine gonad (body structure) false Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Associated morphology Congenital hyperplasia false Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Occurrence Congenital false Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Is a Deficiency of steroid 21-monooxygenase (disorder) false Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Associated morphology Hyperplasia true Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Is a Congenital anomaly of adrenal gland false Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Associated morphology Congenital hyperplasia false Inferred relationship Some 3
Steroid 21-monooxygenase deficiency, salt wasting type Finding site Adrenal cortex structure false Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Occurrence Congenital false Inferred relationship Some 3
Steroid 21-monooxygenase deficiency, salt wasting type Associated morphology Hyperplasia false Inferred relationship Some 2
Steroid 21-monooxygenase deficiency, salt wasting type Finding site Adrenal cortex structure false Inferred relationship Some 3
Steroid 21-monooxygenase deficiency, salt wasting type Occurrence Congenital true Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Finding site Adrenal cortex structure true Inferred relationship Some 1
Steroid 21-monooxygenase deficiency, salt wasting type Due to 21-hydroxylase deficiency false Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Is a 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. true Inferred relationship Some
Steroid 21-monooxygenase deficiency, salt wasting type Due to Deficiency of steroid 21-monooxygenase (disorder) true Inferred relationship Some 2
Steroid 21-monooxygenase deficiency, salt wasting type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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