770561007: syndroom van malformatie van onderste extremiteit en hypospadie (aandoening)

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 the urinary system\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 the urinary system\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 the urinary system\Disorder of urinary tract\Disorder of the 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 the 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 the 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 the urinary system\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 the urinary system\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 the urinary system\Disorder of urinary tract\Disorder of the 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 the urinary system\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 the urinary system\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 the urinary system\Disorder of urinary tract\Disorder of the 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 the urinary system\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 the urinary system\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 the urinary system\Disorder of urinary tract\Disorder of the 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 malposition (disorder)\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 the urinary system\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 the urinary system\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 the urinary system\Disorder of urinary tract\Disorder of the 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 the urinary system\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 the urinary system\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 the urinary system\Disorder of urinary tract\Disorder of the 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 malposition (disorder)\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

6669131000146112 syndroom van malformatie van onderste extremiteit en hypospadie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6669141000146116 syndroom van Fried-Goldberg-Mundel nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6669151000146118 syndroom van malformatie van onderste extremiteit en hypospadie (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6669171000146114 Fried-Goldberg-Mundel-syndroom nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

8189581000146113 syndroom van misvorming van been en hypospadie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lower limb malformation hypospadias syndrome	Is a	Congenital anomaly of lower limb (disorder)	true	Inferred relationship	Some
Lower limb malformation hypospadias syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Lower limb malformation hypospadias syndrome	Is a	Hypospadias (disorder)	true	Inferred relationship	Some
Lower limb malformation hypospadias syndrome	Associated morphology	congenitale afwijkende ligging (afwijkende morfologie)	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	Lower limb structure	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
Lower limb malformation hypospadias syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lower limb malformation hypospadias syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lower limb malformation hypospadias syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lower limb malformation hypospadias syndrome	Associated morphology	Malposition (morphologic abnormality)	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets