773280009: Hydrocephalus, blue sclera, nephropathy syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Urinary system finding\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk\Urogenital finding\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome

\Central nervous system finding\Finding of brain\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome

\Finding of head and neck region\Head finding\...

\Finding of brain\Encephalopathy\...

\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome

\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome

\Finding of head region\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of head region\Disorder of eye region\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of head region\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of head region\Globe finding\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of head region\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome

\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome

\Eye / vision finding\Globe finding\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Eye / vision finding\Globe finding\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Eye / vision finding\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of trunk\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system\Disorder of the urinary system\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye\Disorder of sclera\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Encephalopathy\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital abnormality of lower limb and pelvic girdle\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Abnormal blue sclerae\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of lower trunk\Genitourinary congenital anomalies\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3722879018 Hydrocephalus, blue sclera, nephropathy syndrome en Synonym Active Case insensitive SNOMED CT core

3722880015 Daentl Townsend Siegel syndrome en Synonym Active Case sensitive SNOMED CT core

3722882011 Hydrocephalus, blue sclera, nephropathy syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3722881016 A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Urinary system structure	true	Inferred relationship	Some	3
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	3
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Scleral structure	true	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Some
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Congenital malformation of the urinary system	true	Inferred relationship	Some
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	3
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Brain CSF pathway	true	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Abnormal blue sclerae	true	Inferred relationship	Some
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Some	3
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Dilatation	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3722879018	Hydrocephalus, blue sclera, nephropathy syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3722880015	Daentl Townsend Siegel syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3722882011	Hydrocephalus, blue sclera, nephropathy syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3722881016	A rare genetic renal or urinary tract malformation syndrome with characteristics of nephrotic syndrome with focal segmental sclerosis associated with hydrocephalus, thin skin and blue sclerae. There have been no further descriptions in the literature since 1978.	en	Definition	Active	Case sensitive	SNOMED CT core