770561007: Lower limb malformation hypospadias syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of limb structure (finding)\Disorder of limb\Disorder of lower limb\Congenital anomaly of lower limb\Lower limb malformation hypospadias syndrome
\Finding of limb structure (finding)\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\Lower limb malformation hypospadias syndrome
\Finding of limb structure (finding)\Finding of lower limb (finding)\Disorder of lower limb\Congenital anomaly of lower limb\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\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\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease of urinary tract\Congenital anomaly of the urinary tract\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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease 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\Urinary system finding (finding)\Finding of urinary tract proper (finding)\Lower urinary tract finding (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\Urinary system finding (finding)\Finding of urinary tract proper (finding)\Lower urinary tract finding (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\Urinary system finding (finding)\Finding of urinary tract proper (finding)\Lower urinary tract finding (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\Urinary system finding (finding)\Finding of urinary tract proper (finding)\Disease of urinary tract\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Finding of urinary tract proper (finding)\Disease 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\Urinary system finding (finding)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disease of urinary tract\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Urinary system finding (finding)\Disorder of urinary system\Disease 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\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease of urinary tract\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease 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\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\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease of urinary tract\Congenital anomaly of the urinary tract\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\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease 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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome

\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\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\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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Lower limb malformation hypospadias syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\Lower limb malformation hypospadias syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease of urinary tract\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of body system\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease 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 of lower limb\Congenital anomaly of lower limb\Lower limb malformation hypospadias syndrome
\Disease\Disorder of limb\Congenital anomaly of limb\Congenital anomaly of lower limb\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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Congenital malformation of the urinary system\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease of urinary tract\Congenital anomaly of the urinary tract\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disease of the genitourinary system (disorder)\Disorder of urinary system\Disease 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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Lower limb malformation hypospadias syndrome
\Disease\Developmental disorder (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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower limb\Lower limb malformation hypospadias syndrome
\Disease\Developmental disorder (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\Congenital anomaly of urethra\Hypospadias (disorder)\Lower limb malformation hypospadias syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of lower limb\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

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

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

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

3410061001000113 Anomalien der unteren Extremitäten-Hypospadie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367331000241114 syndrome de Fried-Golberg-Mundel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367341000241116 syndrome de malformation du membre inférieur et hypospadias fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367331000241114 syndrome de Fried-Golberg-Mundel fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

6367341000241116 syndrome de malformation du membre inférieur et hypospadias fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

3410061001000113 Anomalien der unteren Extremitäten-Hypospadie-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Lower limb malformation hypospadias syndrome	Is a	Congenital anomaly of lower limb	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lower limb malformation hypospadias syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lower limb malformation hypospadias syndrome	Is a	Hypospadias (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lower limb malformation hypospadias syndrome	Associated morphology	Congenital malposition	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lower limb malformation hypospadias syndrome	Is a	Multiple malformation syndrome with limb defect as major feature	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Lower limb malformation hypospadias syndrome	Finding site	Lower limb structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lower limb malformation hypospadias syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lower limb malformation hypospadias syndrome	Finding site	Structure of urethral meatus	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lower limb malformation hypospadias syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Lower limb malformation hypospadias syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lower limb malformation hypospadias syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Lower limb malformation hypospadias syndrome	Associated morphology	Malposition (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

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

Back to Start

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
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
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
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
3410061001000113	Anomalien der unteren Extremitäten-Hypospadie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6367331000241114	syndrome de Fried-Golberg-Mundel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6367341000241116	syndrome de malformation du membre inférieur et hypospadias	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6367331000241114	syndrome de Fried-Golberg-Mundel	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6367341000241116	syndrome de malformation du membre inférieur et hypospadias	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3410061001000113	Anomalien der unteren Extremitäten-Hypospadie-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module