57148006: congenitale afwijking van hersenen (aandoening)

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

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

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

\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Congenital neurological disorder (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain
\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
\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
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Congenital anomaly of brain
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly of brain	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Ear, face and neck congenital anomalies	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Congenital anomaly of central nervous system	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Congenital anomaly of head	true	Inferred relationship	Some
Congenital anomaly of brain	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of brain	Occurrence	Congenital	false	Inferred relationship	Some
Congenital anomaly of brain	Finding site	Structure of central nervous system (body structure)	false	Inferred relationship	Some	1
Congenital anomaly of brain	Finding site	Brain structure	true	Inferred relationship	Some	1
Congenital anomaly of brain	Is a	Amyelencephalus (disorder)	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Congenital anomaly of central nervous system	true	Inferred relationship	Some
Congenital anomaly of brain	Finding site	Brain structure	false	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	congenitale anomalie (afwijkende morfologie)	false	Inferred relationship	Some	1
Congenital anomaly of brain	Occurrence	Congenital	false	Inferred relationship	Some	2
Congenital anomaly of brain	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Congenital anomaly of brain	Finding site	Brain structure	false	Inferred relationship	Some	2
Congenital anomaly of brain	Occurrence	Congenital	true	Inferred relationship	Some	1
Congenital anomaly of brain	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Congenital anomaly of brain	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Congenital anomaly of brain	Is a	Developmental anomaly of brain	false	Inferred relationship	Some
Congenital anomaly of brain	Is a	Disorder of brain (disorder)	true	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Hydromicrocephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital hypoplasia of brain	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Cystic malformation of posterior fossa (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Hypogonadism with anosmia	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital brain aplasia (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Aqueduct of Sylvius anomaly (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cerebrofacial dysplasia	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Kundrat's syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Alobar holoprosencephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Dysgenesis of the brainstem	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Colpocephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Autosomal recessive primary microcephaly (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
3C syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus with albinism and digital anomaly syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hadziselimovic syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Filippi syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hall Riggs syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Brain malformation, congenital heart disease, postaxial polydactyly syndrome (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital cerebral ventriculomegaly (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital intrauterine infection-like syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Renier-Gabreels-Jasper-syndroom	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Stimmler syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus, digital anomaly, intellectual disability syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic primordial dwarfism Montreal type	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital porencephalic cyst (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hypotonia, speech impairment, severe cognitive delay syndrome (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Myelomeningocele co-occurrent with hydrocephalus (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Spina bifida with hydrocephalus	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Autosomal dominant primary microcephaly	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Cavernous hemangioma of brain (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Congenital anomaly of cerebrum (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Muscle eye brain disease with bilateral multicystic leukodystrophy	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Vein of Galen malformation (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital athetosis	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Seckel syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
FOXG1 syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
Hereditary cavernous hemangioma of brain (disorder)	Is a	False	Congenital anomaly of brain	Inferred relationship	Some
RAB18, member RAS oncogene family deficiency (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Lowe syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Microcephaly with simplified gyral pattern	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Congenital microencephaly (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome	Is a	True	Congenital anomaly of brain	Inferred relationship	Some
Epilepsy due to congenital anomaly of brain (disorder)	Due to	True	Congenital anomaly of brain	Inferred relationship	Some	2

Start Page 2 of 2

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
95042019	Congenital anomaly of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95043012	Congenital anomaly of brain, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
95044018	Deformity of brain, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
95045017	Congenital lesion of brain, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
95046016	Congenital disease of brain, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
95047013	Deformity of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
95048015	Congenital lesion of brain	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
95049011	Congenital disease of brain	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
795738018	Congenital anomaly of brain (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
2478759015	Congenital brain anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
93061000146111	congenitale misvorming van hersenen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3098181000146117	congenitale afwijking van hersenen (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3098191000146115	congenitale afwijking van hersenen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)