FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.9.1  |  FHIR Version n/a  User: [n/a]

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

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

Descriptions:

Id Description Lang Type Status Case? Module
95637014 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module
95638016 Steroid 5a-reductase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
95639012 Pseudovaginal perineoscrotal hypospadias en Synonym Inactive Entire term case insensitive SNOMED CT core module
95640014 Familial incomplete male pseudohermaphroditism, type 2 en Synonym Inactive Entire term case insensitive SNOMED CT core module
95641013 PPSH en Synonym Inactive Entire term case sensitive SNOMED CT core module
198752011 Steroid 5-alpha-reductase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
497912019 5-alpha reductase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module
796145017 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

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

This concept is not in any reference sets

Back to Start