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57514000: 3-Oxo-5 alpha-steroid delta 4-dehydrogenase 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
198752011 Steroid 5-alpha-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
497912019 5-alpha reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95637014 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95638016 Steroid 5a-reductase deficiency en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) 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 (disorder) survenue (attribut) congénital true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) organes génitaux externes (structure corporelle) true Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Developmental hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Disorder of testis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) pénis (structure corporelle) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Inborn error of metabolism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Male pseudohermaphroditism true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Enzymopathy true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Disorder of steroid metabolism false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hypospadias false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Reproductive system hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hereditary disorder of the urinary system true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Autosomal recessive hereditary disorder true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital anomaly false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hypospadias (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of penis false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) urètre féminin (structure corporelle) false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of testis (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) structure de l'urètre false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Hypospadias (disorder) false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Gonadal structure false Inferred relationship Some 3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Part of male urethra (body structure) true Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of male urogenital tract (disorder) true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital malformation of the urinary system false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) est un(e) (attribut) Congenital anomaly of urethra true Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Part of male urethra (body structure) false Inferred relationship Some 4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Genital structure false Inferred relationship Some 5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Entire genital organ (body structure) false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Male genital structure false Inferred relationship Some 2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) survenue (attribut) congénital false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Structure of urethral aspect of penis false Inferred relationship Some 1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) Male urethral structure false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) Course Multiple superficial injuries of lower leg false Inferred relationship Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) localisation d'une constatation (attribut) testicule (structure corporelle) 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 (disorder) Inferred relationship Some 1

This concept is not in any reference sets

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