47032000: Congenital hydrocephalus (disorder)

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

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus

\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus
\Disease\Fetal and/or neonatal disorder\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus
\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
\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
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Hydrocephalus\Congenital hydrocephalus
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain\Congenital hydrocephalus
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital hydrocephalus
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital hydrocephalus

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2015. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital hydrocephalus	Is a	Obstructive hydrocephalus	false	Inferred relationship	Some
Congenital hydrocephalus	Is a	Congenital anomaly of brain	true	Inferred relationship	Some
Congenital hydrocephalus	Occurrence	Congenital	false	Inferred relationship	Some
Congenital hydrocephalus	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital hydrocephalus	Associated morphology	anomalie du développement	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Cerebrospinal fluid	false	Inferred relationship	Some
Congenital hydrocephalus	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Associated morphology	Non-communicating cerebrospinal fluid retention	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	3
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	3
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Associated morphology	Dilatation	false	Inferred relationship	Some	2
Congenital hydrocephalus	Associated morphology	Accumulation of fluid	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Is a	Hydrocephalus	true	Inferred relationship	Some
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	2
Congenital hydrocephalus	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	2
Congenital hydrocephalus	Associated morphology	anomalie congénitale	false	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Space of ventricular system of brain	false	Inferred relationship	Some	1
Congenital hydrocephalus	Associated morphology	Dilatation	false	Inferred relationship	Some	2
Congenital hydrocephalus	Occurrence	Congenital	false	Inferred relationship	Some	3
Congenital hydrocephalus	Associated morphology	anomalie du développement	false	Inferred relationship	Some	3
Congenital hydrocephalus	Finding site	Brain structure	false	Inferred relationship	Some	3
Congenital hydrocephalus	Occurrence	Congenital	false	Inferred relationship	Some	4
Congenital hydrocephalus	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	4
Congenital hydrocephalus	Finding site	Brain cerebrospinal fluid pathway	false	Inferred relationship	Some	4
Congenital hydrocephalus	Associated morphology	Congenital dilatation	false	Inferred relationship	Some	1
Congenital hydrocephalus	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital hydrocephalus	Finding site	Brain cerebrospinal fluid pathway	true	Inferred relationship	Some	1
Congenital hydrocephalus	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital hydrocephalus	Is a	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Some
Congenital hydrocephalus	Associated morphology	Dilatation	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Dandy-Walker syndrome	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Arnold-Chiari syndrome	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Congenital stenosis of aqueduct of Sylvius	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Spina bifida with hydrocephalus	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Foramen of Magendie atresia (disorder)	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Foramen of Luschka atresia (disorder)	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Congenital hydrocephalus caused by toxoplasmosis	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Other specified congenital hydrocephalus	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Congenital hydrocephalus NOS	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
[X]Other congenital hydrocephalus	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Myelocele with hydrocephalus (disorder)	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Spina bifida with hydrocephalus of late onset	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Rachischisis with hydrocephalus	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Hydromyelocele with hydrocephalus	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
Fetal hydrocephalus suspected (situation)	Associated finding	False	Congenital hydrocephalus	Inferred relationship	Some	1
Cerebral degeneration due to congenital hydrocephalus	Due to	True	Congenital hydrocephalus	Inferred relationship	Some	2
Fetal hydrocephalus suspected (situation)	Associated finding	False	Congenital hydrocephalus	Inferred relationship	Some	1
Family history of congenital hydrocephalus	Associated finding	True	Congenital hydrocephalus	Inferred relationship	Some	1
A rare developmental defect during embryogenesis malformation syndrome characterized by congenital, non-communicating hydrocephalus, cerebellar agenesis and absence of the Luschka and Magendie foramina. Patients present with hypotonia, areflexia or hyporeflexia, seizures and/or cyanosis shortly after birth. The condition is fatal in the neonatal period. There have been no further descriptions in the literature since 1978.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Growth delay - hydrocephaly - lung hypoplasia, also named Game-Friedman-Paradice syndrome, is a rare developmental disorder described in 4 siblings so far and characterized by delayed fetal growth, hydrocephaly with patent aqueduct of Sylvius, underdeveloped lungs and various other anomalies such as small jaw, intestinal malrotation, omphalocele, shortness of lower limbs, bowed tibias and foot deformities.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare multiple congenital anomalies characterized by the association of Vertebral anomalies, Anal atresia, Congenital cardiac disease, Tracheoesophageal fistula, Renal anomalies, and Limb defects (acronym VACTERL) with hydrocephalus. Association with hydrocephalus is relatively rare, may be distinct from VACTERL association in general, and may follow an autosomal recessive pattern of inheritance in some individuals.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare syndromic craniosynostosis characterized by sagittal craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis. Other clinical findings include blepharophimosis, small low-set ears, hypoplastic philtrum, kidney malformation, and hypogenitalism.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare syndromic cardiac disease characterized by communicating hydrocephalus, endocardial fibroelastosis, and congenital cataracts. A history of upper respiratory infection in the mother during the first trimester of pregnancy and polyhydramnios in the third trimester has been associated. No evidence of toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus, syphilis, and galactosemia is reported. There have been no further descriptions in the literature since 1995.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Beemer-Ertbruggen syndrome is a lethal malformation syndrome reported in 2 brothers of first-cousin parents that is characterized by hydrocephalus, cardiac malformation, dense bones, and unusual facies with down-slanting palpebral fissures, bulbous nose, broad nasal bridge, micrognathia and a long upper lip. There have been no further descriptions in the literature since 1984.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare form of syndromic obesity characterized by the association of congenital hydrocephalus, centripetal obesity, hypogonadism, intellectual deficit and short stature.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare syndrome with a central nervous system malformation as a major feature characterized by macrocephaly, megalencephaly, bilateral perisylvian polymicrogyria, variable degrees of ventriculomegaly/hydrocephalus, developmental delay and intellectual disability, oromotor dysfunction, hypotonia, seizures, and dysmorphic facial features (such as frontal bossing, low-set ears, a flat nasal bridge, and high-arched palate). Postaxial polydactyly of one or more extremities is also common.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Hydrocephaly-tall stature-joint laxity syndrome is a multiple congenital anomalies syndrome described in two sisters and characterized by the presence of hydrocephalus (onset in infancy), tall stature, joint laxity, and thoracolumbar kyphosis. There have been no further descriptions in the literature since 1989.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Congenital obstructive hydrocephalus	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
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.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare, congenital X-linked developmental disorder characterized by hydrocephalus of varying degrees of severity, intellectual deficit, spasticity of the legs, and adducted thumbs. The syndrome represents a spectrum of disorders including: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS), MASA syndrome, X-linked complicated hereditary spastic paraplegia type 1, and X-linked complicated corpus callosum agenesis.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Hydrocephalus associated with congenital aqueduct stenosis	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare syndromic primary bone dysplasia characterized by short ribs with a narrow chest and thoracic dysplasia, mild rhizomelic shortening of the limbs, communicating hydrocephalus, and developmental delay. There have been no further descriptions in the literature since 1987.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
Fetal hydrocephalus (disorder)	Is a	False	Congenital hydrocephalus	Inferred relationship	Some
A rare developmental defect during embryogenesis syndrome characterized by a glabellar capillary malformation, congenital communicating hydrocephalus, and posterior fossa brain abnormalities, including Dandy-Walker malformation, cerebellar vermis agenesis, and mega cisterna magna. Seizures are occasionally associated. There have been no further descriptions in the literature since 1979.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some
A rare multiple congenital anomalies/dysmorphic syndrome characterized by congenital hydrocephalus involving the lateral ventricles, low-set umbilicus, bilateral inguinal hernia, and mild facial dysmorphism (such as epicanthal folds, broad, flat nasal bridge, and small, bulbous nose). Additional reported manifestations include unilateral cryptorchidism, vesicoureteral reflux, and tetralogy of Fallot. There have been no further descriptions in the literature since 1993.	Is a	True	Congenital hydrocephalus	Inferred relationship	Some

Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
78386013	Congenital hydrocephalus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78387016	Hydrocephalus in newborn	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78388014	Congenital hydrocephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78389018	Primary hydrocephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78390010	Primary hydrocephalus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78391014	Congenital hydrencephalus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78392019	Congenital hydrencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
78393012	Congenital dilatation of cerebral ventricles	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
784446011	Congenital hydrocephalus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1844051000195118	idrocefalo congenito	it	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
321471000172110	hydrocéphalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
414941000274117	Angeborener Hydrozephalus	de	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module