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44231009: Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
73761017 Cholesterol monooxygenase (side-chain cleaving) deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
73762012 Cholesterol desmolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
73763019 20,22-Desmolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
73764013 Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493818018 Defective synthesis of cholesterol desmolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
781336012 Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
73761017 Cholesterol monooxygenase (side-chain cleaving) deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
73761017 Cholesterol monooxygenase (side-chain cleaving) deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
73762012 Cholesterol desmolase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
73762012 Cholesterol desmolase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
73763019 20,22-Desmolase deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
73764013 Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
73764013 Congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
493818018 Defective synthesis of cholesterol desmolase en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
493818018 Defective synthesis of cholesterol desmolase en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
781336012 Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
781336012 Cholesterol monooxygenase (side-chain cleaving) deficiency (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4533931000241116 syndrome de Prader et Gurtner fr Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
4533931000241116 syndrome de Prader et Gurtner fr Synonym (core metadata concept) Active Only initial character 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
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Enzymopathy true Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Hereditary disorder of endocrine system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Congenital adrenal hyperplasia - desmolase deficiency (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Reproductive system hereditary disorder (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Autosomal recessive hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Inborn error of metabolism true Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Congenital anomaly of adrenal gland false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Male pseudohermaphroditism false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Entire genital organ (body structure) false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology Congenital hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Entire endocrine gonad (body structure) false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Course Multiple superficial injuries of lower leg false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Male structure false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Adrenal cortex structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Gonadal structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 4
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholesterol monooxygenase (side-chain cleaving) deficiency Is a Congenital anomaly of genital system false Inferred relationship Existential restriction modifier (core metadata concept)
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Genital structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Adrenal cortex structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology Congenital hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholesterol monooxygenase (side-chain cleaving) deficiency Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology Hyperplasia false Inferred relationship Existential restriction modifier (core metadata concept) 2
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Adrenal cortex structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
Cholesterol monooxygenase (side-chain cleaving) deficiency Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Finding site Adrenal cortex structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Cholesterol monooxygenase (side-chain cleaving) deficiency Associated morphology Hyperplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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