FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

57148006: Congenital anomaly of brain (disorder)

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

Descriptions:

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
95047013 Deformity of brain en Synonym (core metadata concept) Active Entire term 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
95042019 Congenital anomaly of brain en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95042019 Congenital anomaly of brain en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
95047013 Deformity of brain en Synonym (core metadata concept) Active 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) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
95049011 Congenital disease of brain en Synonym (core metadata concept) Active 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 Only initial character 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 Only initial character 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
499211000274111 Angeborene Fehlbildung des Gehirns de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
275891000077112 anomalie congénitale de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
275891000077112 anomalie congénitale de l'encéphale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
499211000274111 Angeborene Fehlbildung des Gehirns de Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

338 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital anomaly of brain Is a Disorder of brain false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a Ear, face and neck congenital anomalies (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a Congenital anomaly of central nervous system (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a Congenital anomaly of head true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Is a Amyelencephalus (disorder) false Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Is a Congenital anomaly of central nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of brain Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Associated morphology anomalie congénitale false Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of brain Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of brain Finding site Brain structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Congenital anomaly of brain Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Congenital anomaly of brain Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Hydromicrocephaly (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital hypoplasia of brain Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Cystic malformation of posterior fossa (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hypogonadism with anosmia Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital brain aplasia (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Aqueduct of Sylvius anomaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Cerebrofacial dysplasia (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Kundrat's syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Alobar holoprosencephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Dysgenesis of the brainstem Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Colpocephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
3C syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Radioulnar synostosis with microcephaly and scoliosis syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with brachydactyly and kyphoscoliosis syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus cleft palate syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Aphalangy and syndactyly with microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Filippi syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hall Riggs syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Goldberg Shprintzen megacolon syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuro-pituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported. Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Lowry MacLean syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital cerebral ventriculomegaly Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Oculocerebrofacial syndrome Kaufman type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Severe X-linked intellectual disability Gustavson type (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Renier Gabreels Jasper syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism Toriello type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism due to ZNF335 deficiency Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic osteodysplastic primordial dwarfism types I and III Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy, microcephaly, skeletal dysplasia syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Pseudoprogeria syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, digital anomaly, intellectual disability syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, lymphoedema, chorioretinopathy syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of leukotriene C4 synthase Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Cleft palate, large ears, small head syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, obesity, brain malformation, facial dysmorphism syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, complex motor and sensory axonal neuropathy syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Oro-facial digital syndrome type 14 (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism Montreal type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Nijmegen breakage syndrome-like disorder Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism Alazami type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalic primordial dwarfism Dauber type Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephalus, brain defect, spasticity, hypernatremia syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal onset encephalopathy with microcephaly Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Communicating hydrocephalus co-occurrent and due to congenital agenesis of arachnoid villi (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital porencephalic cyst (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly with deafness and intellectual disability syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hypotonia-speech impairment-severe cognitive delay syndrome is a rare, genetic neurodegenerative disorder characterized by severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), profound intellectual disability, and failure to thrive. Additional manifestations include microcephaly, progressive peripheral spasticity, bilateral strabismus and nystagmus, constipation, and variable dysmorphic facial features (including plagiocephaly, broad forehead, small nose, low-set ears, micrognathia and open mouth with tented upper lip). Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Myelomeningocele and hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Spina bifida with hydrocephalus Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
A rare non-acquired pituitary hormone deficiency syndrome with characteristics of severe congenital microcephaly, facial dysmorphism (highly arched eyebrows, hypertelorism, convex nasal ridge, protruding ears with underdeveloped superior antihelix crus, micrognathia), bilateral sensorineural deafness and hypogonadotropic hypogonadism, in association with early feeding problems, myopia, moderate intellectual disability and moderate short stature. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic non-syndromic developmental defect during embryogenesis malformation syndrome with characteristics of congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hydrocephalus with endocardial fibroelastosis and cataract syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Cavernous hemangioma of brain (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurometabolic disorder with characteristics of severe progressive microcephaly, severe to profound global development delay, intellectual disability, seizures (typically tonic and/or myoclonic and frequently intractable), hyperekplexia and axial hypotonia with appendicular spasticity, as well as hyperreflexia, dyskinetic quadriplegia and abnormal brain morphology (cerebral atrophy with variable additional features including ventriculomegaly, pons and/or cerebellar hypoplasia, simplified gyral pattern and delayed myelination). Cortical blindness, feeding difficulties and respiratory insufficiency may also be associated. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the ASNS gene on chromosome 7q21. Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital anomaly of cerebrum (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Vein of Galen malformation (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital athetosis (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Seckel syndrome Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
FOXG1 syndrome (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly-capillary malformation syndrome (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Hereditary cavernous hemangioma of brain (disorder) Is a False Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
RAB18 deficiency Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Lowe syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly with simplified gyral pattern (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Congenital microencephaly Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)
Epilepsy due to congenital anomaly of brain (disorder) Due to True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept) 2
Alkuraya Kucinskas syndrome Is a True Congenital anomaly of brain Inferred relationship Existential restriction modifier (core metadata concept)

Start Page 2 of 2

This concept is not in any reference sets

Back to Start