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770561007: Lower limb malformation hypospadias syndrome (disorder)


Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3701280018 Lower limb malformation hypospadias syndrome en Synonym Active Case insensitive SNOMED CT core
3701281019 Fried Goldberg Mundel syndrome en Synonym Active Case sensitive SNOMED CT core
3701282014 Lower limb malformation hypospadias syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3701283016 A rare developmental defect during embryogenesis with characteristics of severe, unilateral or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligo syndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (for example short neck and low-set, large ears), atrial septal defect, ureteropelvic junction stenosis and slight septation of the spleen, have also been reported. There have been no further descriptions in the literature since 1977. en Definition Active Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lower limb malformation hypospadias syndrome Pathological process Pathological developmental process true Inferred relationship Some 2
Lower limb malformation hypospadias syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Lower limb malformation hypospadias syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Lower limb malformation hypospadias syndrome Associated morphology Malposition true Inferred relationship Some 2
Lower limb malformation hypospadias syndrome Is a Congenital anomaly of lower limb true Inferred relationship Some
Lower limb malformation hypospadias syndrome Occurrence Congenital true Inferred relationship Some 1
Lower limb malformation hypospadias syndrome Is a Hypospadias true Inferred relationship Some
Lower limb malformation hypospadias syndrome Associated morphology Congenital malposition false Inferred relationship Some 2
Lower limb malformation hypospadias syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Some
Lower limb malformation hypospadias syndrome Finding site Structure of lower limb true Inferred relationship Some 1
Lower limb malformation hypospadias syndrome Occurrence Congenital true Inferred relationship Some 2
Lower limb malformation hypospadias syndrome Finding site Structure of urethral meatus true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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