1237342004: Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder)

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

\Viscus structure finding (finding)\Abdominal organ finding\Kidney finding\Kidney disease\...

\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Head finding (finding)\Finding of head circumference\Microcephaly (finding)\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Head finding (finding)\Disorder of head (disorder)\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Body measurement finding\Finding of head circumference\Microcephaly (finding)\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of fetal abdominal region\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Abdominal organ finding\Kidney finding\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Finding of abdomen\Disorder of abdomen (disorder)\Disorder of fetal abdominal region\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Kidney finding\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of fetal abdominal region\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Malformation of central nervous system of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Fetal finding\Fetal disorder\...

\Disorder of fetal structure\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disorder of fetal structure\Malformation of central nervous system of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disorder of fetal structure\Multiple anomalies of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disorder of fetal structure\Fetal growth abnormality\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Disorder of fetal abdominal region\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Fetus with hereditary disease\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Fetus with hereditary disease\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Disorder of fetal structure\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Disorder of fetal structure\Malformation of central nervous system of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Disorder of fetal structure\Multiple anomalies of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Disorder of fetal structure\Fetal growth abnormality\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Disorder of fetal abdominal region\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of foetus and/or newborn\Fetal disorder\Fetus with hereditary disease\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Malformation of central nervous system of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of retroperitoneal compartment (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of abdomen (disorder)\Disorder of fetal abdominal region\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia 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 kidney and/or ureter (disorder)\Kidney disease\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Hereditary disorder of the urinary system\Hereditary nephropathy (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of head (disorder)\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Developmental disorder\Disorder of fetal structure\Fetal genitourinary abnormality (disorder)\Anomaly of fetal kidney\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Developmental disorder\Disorder of fetal structure\Malformation of central nervous system of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Developmental disorder\Disorder of fetal structure\Multiple anomalies of fetus (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Developmental disorder\Disorder of fetal structure\Fetal growth abnormality\Fetal microcephaly (disorder)\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5097796018 Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5097797010 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5097798017 Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5097799013 Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5400259011 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400260018 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterised by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. 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
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Fetus with hereditary disease	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Hereditary nephropathy (disorder)	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Fetal microcephaly (disorder)	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Anomaly of fetal kidney	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Multiple anomalies of fetus (disorder)	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Is a	Malformation of central nervous system of fetus (disorder)	true	Inferred relationship	Some
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Interprets	Head circumference	true	Inferred relationship	Some	4
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Occurrence	Fetal period	true	Inferred relationship	Some	1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Finding site	Kidney structure	true	Inferred relationship	Some	1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Occurrence	Fetal period	true	Inferred relationship	Some	2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Finding site	Cerebrum	true	Inferred relationship	Some	2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Occurrence	Fetal period	true	Inferred relationship	Some	3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Finding site	Head structure	true	Inferred relationship	Some	3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Associated morphology	Growth alteration	true	Inferred relationship	Some	3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3

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
5097796018	Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5097797010	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5097798017	Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5097799013	Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5400259011	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400260018	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterised by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core