FHIR IG analytics| Package | us.nlm.vsac |
| Resource Type | ValueSet |
| Id | ValueSet-2.16.840.1.113762.1.4.1146.2645.json |
| FHIR Version | R4 |
| Source | https://vsac.nlm.nih.gov/valueset/2.16.840.1.113762.1.4.1146.2645/expansion |
| URL | http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2645 |
| Version | 20250621 |
| Status | active |
| Date | 2025-06-21T01:03:03-04:00 |
| Name | CongenitalAnomaliesOfTheBrainSNOMED |
| Title | Congenital Anomalies of the Brain (SNOMED) |
| Realm | us |
| Authority | hl7 |
| Purpose | (Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Congenital Anomalies of the Brain regardless of the clinical presentation of the condition.),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Congenital Anomalies of the Brain),(Exclusion Criteria: None) |
No resources found
| CodeSystem | |
| sct | SNOMED codes used in this IG |
No narrative content found in resource
FHIR
FHIRsmith{
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"id": "2.16.840.1.113762.1.4.1146.2645",
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"extension": [
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"valueString": "G_Common"
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"url": "http://cts.nlm.nih.gov/fhir/ValueSet/2.16.840.1.113762.1.4.1146.2645",
"identifier": [
{
"system": "urn:ietf:rfc:3986",
"value": "urn:oid:2.16.840.1.113762.1.4.1146.2645"
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],
"version": "20250621",
"name": "CongenitalAnomaliesOfTheBrainSNOMED",
"title": "Congenital Anomalies of the Brain (SNOMED)",
"status": "active",
"date": "2025-06-21T01:03:03-04:00",
"publisher": "CSTE Steward",
"jurisdiction": [
{
"coding": [
{
"system": "urn:iso:std:iso:3166",
"code": "US"
}
]
}
],
"purpose": "(Clinical Focus: This set of values contains diagnoses or problems that represent that the patient has Congenital Anomalies of the Brain regardless of the clinical presentation of the condition.),(Data Element Scope: Diagnoses or problems documented in a clinical record.),(Inclusion Criteria: Congenital Anomalies of the Brain),(Exclusion Criteria: None)",
"compose": {
"include": [
{
"system": "http://snomed.info/sct",
"concept": [
{
"code": "10007009",
"display": "Coffin-Siris syndrome (disorder)"
},
{
"code": "1003373003",
"display": "Microcephaly with simplified gyral pattern (disorder)"
},
{
"code": "1003374009",
"display": "Microlissencephaly (disorder)"
},
{
"code": "1003429001",
"display": "Focal cortical dysplasia type IIa (disorder)"
},
{
"code": "1003430006",
"display": "Focal cortical dysplasia type IIb (disorder)"
},
{
"code": "1003444000",
"display": "Type 3 lissencephaly (disorder)"
},
{
"code": "1003445004",
"display": "Lumbosacral spina bifida aperta with hydrocephalus (disorder)"
},
{
"code": "1003461002",
"display": "Focal cortical dysplasia type II (disorder)"
},
{
"code": "1003462009",
"display": "Focal cortical dysplasia type Ib (disorder)"
},
{
"code": "1003463004",
"display": "Focal cortical dysplasia type I (disorder)"
},
{
"code": "1003464005",
"display": "Focal cortical dysplasia type Ia (disorder)"
},
{
"code": "1010464002",
"display": "Agenesis of right hemisphere of cerebellum (disorder)"
},
{
"code": "1010465001",
"display": "Agenesis of left hemisphere of cerebellum (disorder)"
},
{
"code": "1010604007",
"display": "Ventriculomegaly due to developmental anomaly (disorder)"
},
{
"code": "1010630006",
"display": "X-linked complicated corpus callosum dysgenesis (disorder)"
},
{
"code": "1010663004",
"display": "Subcortical nodular heterotopia (disorder)"
},
{
"code": "109561000",
"display": "Cerebrofacial dysplasia (disorder)"
},
{
"code": "111337001",
"display": "Dyke-Davidoff-Masson syndrome (disorder)"
},
{
"code": "111504002",
"display": "Walker-Warburg congenital muscular dystrophy (disorder)"
},
{
"code": "111641000119102",
"display": "Congenital choroid plexus cyst (disorder)"
},
{
"code": "1149087003",
"display": "Congenital microencephaly (disorder)"
},
{
"code": "1162839003",
"display": "XK aprosencephaly syndrome (disorder)"
},
{
"code": "1169358003",
"display": "Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, hydranencephaly syndrome (disorder)"
},
{
"code": "11701009",
"display": "Hemicephaly (disorder)"
},
{
"code": "1172594000",
"display": "Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome (disorder)"
},
{
"code": "1172705006",
"display": "Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder)"
},
{
"code": "1177169004",
"display": "Congenital cerebellar ataxia due to RNA, U12 small nuclear mutation (disorder)"
},
{
"code": "1187195007",
"display": "Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)"
},
{
"code": "1187215002",
"display": "Tubulinopathy-associated dysgyria (disorder)"
},
{
"code": "1187304005",
"display": "Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome (disorder)"
},
{
"code": "1208338004",
"display": "Dysraphism, cleft lip and palate, limb reduction defect syndrome (disorder)"
},
{
"code": "1208346003",
"display": "Congenital hydrocephalus, low insertion of umbilicus syndrome (disorder)"
},
{
"code": "1208720000",
"display": "Agenesis of corpus callosum, macrocephaly, hypertelorism syndrome (disorder)"
},
{
"code": "1208727002",
"display": "Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder)"
},
{
"code": "1208935007",
"display": "Polymicrogyria due to tubulin beta 2B class IIb mutation (disorder)"
},
{
"code": "1216942009",
"display": "Cerebral ventriculomegaly, cystic kidney disease (disorder)"
},
{
"code": "1217228004",
"display": "X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome (disorder)"
},
{
"code": "1222710008",
"display": "Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder)"
},
{
"code": "12275031000119106",
"display": "Congenital cerebral ventriculomegaly (disorder)"
},
{
"code": "1229876001",
"display": "Lethal brain and heart developmental defects syndrome (disorder)"
},
{
"code": "1231746006",
"display": "Isolated agenesis of cerebellar vermis (disorder)"
},
{
"code": "1237365009",
"display": "Aprosencephaly/atelencephaly spectrum (disorder)"
},
{
"code": "1237366005",
"display": "Aprosencephaly cerebellar dysgenesis (disorder)"
},
{
"code": "1237418002",
"display": "Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome (disorder)"
},
{
"code": "1237462006",
"display": "nudE neurodevelopment protein 1-related microhydranencephaly (disorder)"
},
{
"code": "1237470001",
"display": "Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)"
},
{
"code": "1237475006",
"display": "Cerebellar-facial-dental syndrome (disorder)"
},
{
"code": "1254650002",
"display": "Microcephaly, corpus callosum hypoplasia, intellectual disability, facial dysmorphism syndrome (disorder)"
},
{
"code": "1260143005",
"display": "Megalencephaly, severe kyphoscoliosis, overgrowth syndrome (disorder)"
},
{
"code": "1269233006",
"display": "Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome (disorder)"
},
{
"code": "127551000119100",
"display": "Congenital hypoplasia of brain (disorder)"
},
{
"code": "1300188000",
"display": "Congenital pontocerebellar hypoplasia type 11 (disorder)"
},
{
"code": "1300190004",
"display": "Congenital pontocerebellar hypoplasia type 12 (disorder)"
},
{
"code": "1300191000",
"display": "Congenital pontocerebellar hypoplasia type 13 (disorder)"
},
{
"code": "1300192007",
"display": "Congenital pontocerebellar hypoplasia type 14 (disorder)"
},
{
"code": "14447001",
"display": "Dandy-Walker syndrome (disorder)"
},
{
"code": "16026008",
"display": "Congenital cerebellar hypoplasia (disorder)"
},
{
"code": "19276002",
"display": "Congenital cerebral cyst (disorder)"
},
{
"code": "203934001",
"display": "Cervical spina bifida with hydrocephalus (disorder)"
},
{
"code": "203935000",
"display": "Thoracic spina bifida with hydrocephalus (disorder)"
},
{
"code": "203936004",
"display": "Lumbar spina bifida with hydrocephalus (disorder)"
},
{
"code": "203941007",
"display": "Cervical spina bifida with hydrocephalus - open (disorder)"
},
{
"code": "203942000",
"display": "Thoracic spina bifida with hydrocephalus - open (disorder)"
},
{
"code": "203943005",
"display": "Lumbar spina bifida with hydrocephalus - open (disorder)"
},
{
"code": "203944004",
"display": "Sacral spina bifida with hydrocephalus - open (disorder)"
},
{
"code": "203946002",
"display": "Spina bifida with hydrocephalus - closed (disorder)"
},
{
"code": "203948001",
"display": "Cervical spina bifida with hydrocephalus - closed (disorder)"
},
{
"code": "203949009",
"display": "Thoracic spina bifida with hydrocephalus - closed (disorder)"
},
{
"code": "203950009",
"display": "Lumbar spina bifida with hydrocephalus - closed (disorder)"
},
{
"code": "203951008",
"display": "Sacral spina bifida with hydrocephalus - closed (disorder)"
},
{
"code": "203954000",
"display": "Spina bifida with hydrocephalus of late onset (disorder)"
},
{
"code": "203955004",
"display": "Spina bifida with stenosis of aqueduct of Sylvius (disorder)"
},
{
"code": "203957007",
"display": "Dandy-Walker syndrome with spina bifida (disorder)"
},
{
"code": "204036008",
"display": "Lissencephaly (disorder)"
},
{
"code": "204040004",
"display": "Agenesis of cerebrum (disorder)"
},
{
"code": "204042007",
"display": "Congenital malformation of corpus callosum (disorder)"
},
{
"code": "204043002",
"display": "Hypoplasia of corpus callosum (disorder)"
},
{
"code": "204044008",
"display": "Aplasia of corpus callosum (disorder)"
},
{
"code": "204046005",
"display": "Anomalies of hypothalamus (disorder)"
},
{
"code": "204047001",
"display": "Anomalies of cerebellum (disorder)"
},
{
"code": "204049003",
"display": "Aplasia of cerebellum (disorder)"
},
{
"code": "204061006",
"display": "Foramen of Magendie atresia (disorder)"
},
{
"code": "204062004",
"display": "Foramen of Luschka atresia (disorder)"
},
{
"code": "204067005",
"display": "Single congenital cerebral cyst (disorder)"
},
{
"code": "204068000",
"display": "Multiple congenital cerebral cysts (disorder)"
},
{
"code": "204074000",
"display": "Multiple brain anomalies (disorder)"
},
{
"code": "205749001",
"display": "Congenital absence of pituitary gland (disorder)"
},
{
"code": "205750001",
"display": "Accessory pituitary gland (disorder)"
},
{
"code": "21634003",
"display": "Borjeson-Forssman-Lehmann syndrome (disorder)"
},
{
"code": "22471005",
"display": "Hemispheric cerebellar agenesis (disorder)"
},
{
"code": "23024003",
"display": "Macrogyria (disorder)"
},
{
"code": "230530003",
"display": "Congenital nuclear ophthalmoplegia (disorder)"
},
{
"code": "23931000119104",
"display": "Hydrocephalus due to Arnold Chiari malformation type 2 (disorder)"
},
{
"code": "23941000119108",
"display": "Arnold Chiari type 2 without hydrocephalus (disorder)"
},
{
"code": "253113003",
"display": "Rachischisis with hydrocephalus (disorder)"
},
{
"code": "253114009",
"display": "Myelocele with hydrocephalus (disorder)"
},
{
"code": "253117002",
"display": "Closed spina bifida with Arnold-Chiari malformation (disorder)"
},
{
"code": "253118007",
"display": "Thoracolumbar spina bifida with hydrocephalus - closed (disorder)"
},
{
"code": "253133004",
"display": "Hydrocephalus with anomaly of aqueduct of Sylvius (disorder)"
},
{
"code": "253135006",
"display": "Defect of telencephalic division (disorder)"
},
{
"code": "253136007",
"display": "Lobar holoprosencephaly (disorder)"
},
{
"code": "253137003",
"display": "Alobar holoprosencephaly (disorder)"
},
{
"code": "253138008",
"display": "Semi-lobar holoprosencephaly (disorder)"
},
{
"code": "253139000",
"display": "Agenesis of corpus callosum with lipoma (disorder)"
},
{
"code": "253140003",
"display": "Partial agenesis of corpus callosum (disorder)"
},
{
"code": "253143001",
"display": "Absence of septum pellucidum (disorder)"
},
{
"code": "253147000",
"display": "Type 1 lissencephaly (disorder)"
},
{
"code": "253148005",
"display": "Miller Dieker syndrome (disorder)"
},
{
"code": "253149002",
"display": "Type 2 lissencephaly (disorder)"
},
{
"code": "253151003",
"display": "Nodular heterotopia (disorder)"
},
{
"code": "253152005",
"display": "Laminar heterotopia (disorder)"
},
{
"code": "253153000",
"display": "Cortical dysplasia (disorder)"
},
{
"code": "253154006",
"display": "Localized cortical dysplasia (disorder)"
},
{
"code": "253156008",
"display": "Cortical dysplasia with hemimegalencephaly (disorder)"
},
{
"code": "253158009",
"display": "Hydranencephaly with proliferative vasculopathy (disorder)"
},
{
"code": "253159001",
"display": "Schizencephaly (disorder)"
},
{
"code": "253160006",
"display": "Colpocephaly (disorder)"
},
{
"code": "253167009",
"display": "Microdysgenesis (disorder)"
},
{
"code": "253168004",
"display": "Familial megalencephaly (disorder)"
},
{
"code": "253169007",
"display": "Sporadic megalencephaly (disorder)"
},
{
"code": "253170008",
"display": "Hemimegalencephaly (disorder)"
},
{
"code": "253171007",
"display": "Dysgenesis of the cerebellum (disorder)"
},
{
"code": "253172000",
"display": "Agenesis of cerebellum (disorder)"
},
{
"code": "253174004",
"display": "Aplasia of the vermis (disorder)"
},
{
"code": "253175003",
"display": "Familial aplasia of the vermis (disorder)"
},
{
"code": "253178001",
"display": "Granular cell hypoplasia (disorder)"
},
{
"code": "253179009",
"display": "Cerebellar cortical dysplasia (disorder)"
},
{
"code": "253180007",
"display": "Dysgenesis of the brainstem (disorder)"
},
{
"code": "253181006",
"display": "Olive dysplasia (disorder)"
},
{
"code": "253182004",
"display": "Dentate dysplasia (disorder)"
},
{
"code": "253183009",
"display": "Olivary heterotopia (disorder)"
},
{
"code": "253184003",
"display": "Chiari malformation (disorder)"
},
{
"code": "253185002",
"display": "Chiari malformation type I (disorder)"
},
{
"code": "253186001",
"display": "Chiari malformation type III (disorder)"
},
{
"code": "253187005",
"display": "Chiari malformation type IV (disorder)"
},
{
"code": "253203003",
"display": "Hypoplasia of brain gyri (disorder)"
},
{
"code": "25397008",
"display": "Aqueduct of Sylvius anomaly (disorder)"
},
{
"code": "254132000",
"display": "Endosteal hyperostoses with cerebellar hypoplasia (disorder)"
},
{
"code": "254255007",
"display": "Congenital malformation of anterior pituitary (disorder)"
},
{
"code": "254256008",
"display": "Congenital malformation of posterior pituitary (disorder)"
},
{
"code": "2593002",
"display": "Dubowitz's syndrome (disorder)"
},
{
"code": "26595007",
"display": "Congenital absence of part of brain (disorder)"
},
{
"code": "268143001",
"display": "Spina bifida with hydrocephalus - open (disorder)"
},
{
"code": "277921008",
"display": "Atelencephaly (disorder)"
},
{
"code": "277922001",
"display": "Aprosencephaly (disorder)"
},
{
"code": "30023002",
"display": "Hydranencephaly (disorder)"
},
{
"code": "30278004",
"display": "Kundrat's syndrome (disorder)"
},
{
"code": "302882002",
"display": "Hydrocephalus associated with congenital aqueduct stenosis (disorder)"
},
{
"code": "307355007",
"display": "Congenital athetosis (disorder)"
},
{
"code": "307359001",
"display": "Congenital agenesis of brainstem nuclei (disorder)"
},
{
"code": "31429000",
"display": "Cerebral cortical dysgenesis (disorder)"
},
{
"code": "330041000119103",
"display": "Congenital porencephalic cyst (disorder)"
},
{
"code": "35111000119109",
"display": "Cystic malformation of posterior fossa (disorder)"
},
{
"code": "359824007",
"display": "Incomplete anencephaly (disorder)"
},
{
"code": "373587001",
"display": "Chiari malformation type II (disorder)"
},
{
"code": "38353004",
"display": "Congenital porencephaly (disorder)"
},
{
"code": "38632003",
"display": "Pharyngeal pituitary tissue (disorder)"
},
{
"code": "39574006",
"display": "Congenital hypoplasia of inner granular layer of cerebellum (disorder)"
},
{
"code": "416792008",
"display": "Vein of Galen malformation (disorder)"
},
{
"code": "417658006",
"display": "Holoanencephaly (disorder)"
},
{
"code": "422474003",
"display": "Partial absence of septum pellucidum (disorder)"
},
{
"code": "438583008",
"display": "Congenital bilateral perisylvian syndrome (disorder)"
},
{
"code": "442300000",
"display": "Rhombencephalosynapsis (disorder)"
},
{
"code": "45163000",
"display": "Congenital pontocerebellar hypoplasia (disorder)"
},
{
"code": "460880006",
"display": "Arteriovenous fistula of great cerebral vein of Galen (disorder)"
},
{
"code": "47032000",
"display": "Congenital hydrocephalus (disorder)"
},
{
"code": "4945003",
"display": "Microgyria (disorder)"
},
{
"code": "50429003",
"display": "Congenital stenosis of aqueduct of Sylvius (disorder)"
},
{
"code": "5102002",
"display": "Agenesis of corpus callosum (disorder)"
},
{
"code": "52859009",
"display": "Rathke's pouch cyst (disorder)"
},
{
"code": "53318002",
"display": "Spina bifida with hydrocephalus (disorder)"
},
{
"code": "54794009",
"display": "Ectopic gray matter in centrum ovale (disorder)"
},
{
"code": "56155002",
"display": "Hemispheric cerebral agenesis (disorder)"
},
{
"code": "56531003",
"display": "Ulegyria (disorder)"
},
{
"code": "57148006",
"display": "Congenital anomaly of brain (disorder)"
},
{
"code": "609528003",
"display": "Posterior fossa arachnoid cyst (disorder)"
},
{
"code": "609529006",
"display": "Persistent Blake's pouch cyst (disorder)"
},
{
"code": "62158001",
"display": "Status marmoratus (disorder)"
},
{
"code": "6537000",
"display": "Ectopic pituitary tissue (disorder)"
},
{
"code": "67876003",
"display": "Congenital obstruction of aqueduct of Sylvius (disorder)"
},
{
"code": "698999002",
"display": "Congenital atresia of aqueduct of Sylvius (disorder)"
},
{
"code": "699812002",
"display": "Subependymal nodular heterotopia (disorder)"
},
{
"code": "700063005",
"display": "Megalencephaly capillary malformation (disorder)"
},
{
"code": "702450004",
"display": "FOXG1 syndrome (disorder)"
},
{
"code": "702611008",
"display": "Congenital brain aplasia (disorder)"
},
{
"code": "702628006",
"display": "Congenital anomaly of cerebrum (disorder)"
},
{
"code": "703536004",
"display": "Megalencephalic leukoencephalopathy with subcortical cysts (disorder)"
},
{
"code": "715369006",
"display": "Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)"
},
{
"code": "715406003",
"display": "Isolated lissencephaly type 1 without known genetic defect (disorder)"
},
{
"code": "715422002",
"display": "Craniotelencephalic dysplasia (disorder)"
},
{
"code": "715436007",
"display": "Congenital cerebellar hypoplasia co-occurrent with tapetoretinal degeneration (disorder)"
},
{
"code": "715463008",
"display": "Congenital pontocerebellar hypoplasia type 2 (disorder)"
},
{
"code": "715727009",
"display": "Pituitary stalk interruption syndrome (disorder)"
},
{
"code": "715780008",
"display": "Lissencephaly type 1 due to doublecortin gene mutation (disorder)"
},
{
"code": "715817007",
"display": "Lissencephaly co-occurrent with congenital cerebellar hypoplasia (disorder)"
},
{
"code": "715819005",
"display": "Lissencephaly co-occurrent with congenital cerebellar hypoplasia type B (disorder)"
},
{
"code": "715820004",
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