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

Descriptions:

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	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	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Entire genital organ (body structure)	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	utvecklingsabnormitet	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	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
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	kongenital anomali	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 (body structure)	false	Inferred relationship	Some	3
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Entire genital organ (body structure)	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	kongenital anomali	false	Inferred relationship	Some	5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	kongenital anomali	false	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	kongenital anomali	false	Inferred relationship	Some	4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Entire genital organ (body structure)	false	Inferred relationship	Some	4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	kongenital anomali	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	kongenital anomali	false	Inferred relationship	Some	4
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	kongenital anomali	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	medfödd missbildning	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 (disorder)	false	Inferred relationship	Some
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Structure of urethral aspect of penis (body structure)	false	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	medfödd missbildning	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	medfödd missbildning	false	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Part of male urethra (body structure)	true	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Is a	Congenital anomaly of male urogenital tract (disorder)	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	utvecklingsabnormitet	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	utvecklingsabnormitet	false	Inferred relationship	Some	5
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Finding site	Part of male urethra (body structure)	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	Occurrence	Congenital	true	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	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 (morphologic abnormality)	true	Inferred relationship	Some	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Pathological process (attribute)	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 (attribute)	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

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

This concept is not in any reference sets

Id	Description	Lang	Type	Status	Case?	Module
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
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
789391000052117	brist på 3-Oxo-5 alfa-steroid delta 4-dehydrogenas	sv	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)