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

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Finding of head region\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Finding of head region\Globe finding\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Finding of head region\Globe finding\Sclera and episclera finding\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Urinary system finding\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy syndrome

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

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

\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of sensory organ (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\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\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Fetal and/or neonatal disorder\Congenital disease (disorder)\Congenital malformation\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 body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\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\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (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\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\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)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of urinary system (disorder)\Congenital malformation of the urinary system\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of trunk (disorder)\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)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Anomaly of eye (disorder)\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head (disorder)\Disorder of eye region (disorder)\Disorder of eye proper (disorder)\Disorder of sclera\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Hydrocephalus, blue sclera, nephropathy 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\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital malformation\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 malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera (disorder)\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Developmental disorder\Congenital malformation\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, 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

3722879018 Hydrocephalus, blue sclera, nephropathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3722880015 Daentl Townsend Siegel syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3722882011 Hydrocephalus, blue sclera, nephropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) 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 Inactive Entire term case sensitive (core metadata concept) SNOMED CT core
5405182016 A rare, genetic, renal malformation syndrome characterized by 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 Entire term case sensitive (core metadata concept) SNOMED CT core
5405183014 A rare, genetic, renal malformation syndrome characterised by 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 Entire term case sensitive (core metadata concept) 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 (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Urinary system structure (body 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 (attribute)	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 (morphologic abnormality)	true	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	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 cerebrospinal fluid pathway	true	Inferred relationship	Some	2
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Blue sclera (disorder)	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

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

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3722879018	Hydrocephalus, blue sclera, nephropathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3722880015	Daentl Townsend Siegel syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3722882011	Hydrocephalus, blue sclera, nephropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	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	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405182016	A rare, genetic, renal malformation syndrome characterized by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5405183014	A rare, genetic, renal malformation syndrome characterised by 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	Entire term case sensitive (core metadata concept)	SNOMED CT core