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

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

\Finding of brain\Disorder of brain\...

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

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\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\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome

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

\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\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\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\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 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\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\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 proper\Anomaly of eye\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Disorder of sclera\Congenital anomaly of sclera\Blue sclera\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\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Disorder of brain\Hydrocephalus\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\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\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\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\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital anomaly of sclera\Blue sclera\Hydrocephalus, blue sclera, nephropathy syndrome
\Disease\Congenital disease\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\Developmental disorder\Congenital malformation\Congenital malformation syndrome\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\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\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. Date: 31-Jan 2019. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3722879018 Hydrocephalus, blue sclera, nephropathy syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

3722880015 Daentl Townsend Siegel syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

3722882011 Hydrocephalus, blue sclera, nephropathy syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Urinary system structure	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Congenital dilatation	false	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Scleral structure	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Congenital hydrocephalus	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Congenital malformation of the urinary system	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, blue sclera, nephropathy syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, blue sclera, nephropathy syndrome	Finding site	Structure of brain cerebrospinal fluid pathway	true	Inferred relationship	Existential restriction modifier	2
Hydrocephalus, blue sclera, nephropathy syndrome	Is a	Blue sclera	true	Inferred relationship	Existential restriction modifier
Hydrocephalus, blue sclera, nephropathy syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Hydrocephalus, blue sclera, nephropathy syndrome	Associated morphology	Dilatation	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
3722879018	Hydrocephalus, blue sclera, nephropathy syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3722880015	Daentl Townsend Siegel syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
3722882011	Hydrocephalus, blue sclera, nephropathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module