698855007: 21-hydroxylase deficiency (disorder)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

2981453012 CYP21 deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core

2981456016 21-hydroxylase deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

2981467015 21-hydroxylase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
21-hydroxylase deficiency	Is a	Adrenogenital disorder	false	Inferred relationship	Some
21-hydroxylase deficiency	Is a	Hereditary disorder of endocrine system (disorder)	false	Inferred relationship	Some
21-hydroxylase deficiency	Is a	Disorder of steroid metabolism	false	Inferred relationship	Some
21-hydroxylase deficiency	Is a	Specific enzyme deficiency	false	Inferred relationship	Some
21-hydroxylase deficiency	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Some
21-hydroxylase deficiency	Finding site	Adrenal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Steroid 21-monooxygenase deficiency, simple virilizing type	Due to	False	21-hydroxylase deficiency	Inferred relationship	Some
Steroid 21-monooxygenase deficiency, salt wasting type	Due to	False	21-hydroxylase deficiency	Inferred relationship	Some
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.	Due to	False	21-hydroxylase deficiency	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

SAME AS association reference set (foundation metadata concept)