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57514000: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
198752011 Steroid 5-alpha-reductase deficiency en Synonym Active Case insensitive SNOMED CT core
497912019 5-alpha reductase deficiency en Synonym Active Case insensitive SNOMED CT core
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Initial character case insensitive SNOMED CT core
95637014 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency en Synonym Active Initial character case insensitive SNOMED CT core
95638016 Steroid 5a-reductase deficiency en Synonym Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Pathological process Pathological developmental process true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Pathological process Pathological developmental process true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site External genitalia structure true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Developmental hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Disorder of testis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Penile structure false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Inborn error of metabolism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Male pseudohermaphroditism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Enzymopathy true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Disorder of steroid metabolism false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Reproductive system hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hereditary disorder of the urinary system true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Autosomal recessive hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital anomaly false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of penis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Female urethral structure false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of testis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Urethral structure false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Part of male urethra true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of male urogenital tract true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital malformation of the urinary system false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Is a Congenital anomaly of urethra true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Developmental abnormality false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Developmental abnormality false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Part of male urethra false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Genital structure false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Developmental abnormality false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Entire genital organ false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Male genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Occurrence Congenital false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Associated morphology Developmental abnormality false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Male urethral structure false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Course Multiple superficial injuries of lower leg false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Finding site Testis structure false Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Pseudovaginal perineoscrotal hypospadias Due to True 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency Inferred relationship Some 1

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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