770561007: Lower limb malformation hypospadias syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Finding of limb structure\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of limb structure\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of limb structure\Finding of lower limb\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Finding of urinary tract proper (finding)\Lower urinary tract finding\Urethral finding\Urethral meatus finding\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Finding of urinary tract proper (finding)\Lower urinary tract finding\Urethral finding\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Finding of urinary tract proper (finding)\Lower urinary tract finding\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Finding of urinary tract proper (finding)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Finding of urinary tract proper (finding)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of limb (disorder)\Disorder of lower limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of limb (disorder)\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of urinary tract\Disorder of lower urinary tract (disorder)\Disorder of urethra\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Lower limb malformation hypospadias syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract proper (disorder)\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
• \Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb (disorder)\Lower limb malformation hypospadias syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id	Description	Lang	Type	Status	Case?	Module
3701280018	Lower limb malformation hypospadias syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3701281019	Fried Goldberg Mundel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3701282014	Lower limb malformation hypospadias syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5404806011	Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterized by severe, uni- or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5404807019	Lower limb malformation-hypospadias syndrome is a rare developmental defect during embryogenesis characterised by severe, uni- or bilateral lower limb malformations (including tibial hypoplasia, split and rocker bottom-shaped feet, and oligosyndactyly), normal upper limbs and hypospadias. Additional dysmorphic features (e.g. 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	Entire term case sensitive (core metadata concept)	SNOMED CT core

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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