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9740002: Macroencephaly (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
17037019 Macroencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
17038012 Megalencephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
841966013 Macroencephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2027061000005118 Makroencefali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

9 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Macroencephaly Is a Congenital anomaly of brain false Inferred relationship Some
Macroencephaly Occurrence Congenital false Inferred relationship Some
Macroencephaly Finding site Structure of central nervous system (body structure) false Inferred relationship Some 1
Macroencephaly Associated morphology dysgenese false Inferred relationship Some 1
Macroencephaly Associated morphology kongenit hypertrofi false Inferred relationship Some 1
Macroencephaly Finding site Head structure false Inferred relationship Some 2
Macroencephaly Associated morphology kongenit anomali false Inferred relationship Some 1
Macroencephaly Finding site Brain structure false Inferred relationship Some 1
Macroencephaly Associated morphology kongenit hypertrofi false Inferred relationship Some 1
Macroencephaly Finding site Brain structure false Inferred relationship Some 1
Macroencephaly Associated morphology kongenit forstørrelse false Inferred relationship Some 2
Macroencephaly Finding site Entire brain false Inferred relationship Some 2
Macroencephaly Occurrence Congenital true Inferred relationship Some 1
Macroencephaly Associated morphology dysgenese false Inferred relationship Some 1
Macroencephaly Finding site Brain structure false Inferred relationship Some 1
Macroencephaly Associated morphology kongenit forstørrelse false Inferred relationship Some 3
Macroencephaly Finding site Entire brain false Inferred relationship Some 3
Macroencephaly Occurrence Congenital false Inferred relationship Some 3
Macroencephaly Finding site Entire brain false Inferred relationship Some 1
Macroencephaly Is a Kongenitte anomalier og udviklingsanomalier i nervesystemet false Inferred relationship Some
Macroencephaly Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Macroencephaly Associated morphology kongenit forstørrelse false Inferred relationship Some 1
Macroencephaly Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Some 1
Macroencephaly Is a Congenital anomaly of cerebrum (disorder) true Inferred relationship Some
Macroencephaly Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Familial megalencephaly Is a True Macroencephaly Inferred relationship Some
Sporadic megalencephaly (disorder) Is a True Macroencephaly Inferred relationship Some
Hemimegalencephaly Is a True Macroencephaly Inferred relationship Some
Megalencephaly-capillary malformation syndrome Is a False Macroencephaly Inferred relationship Some
Megalencephalic leukoencephalopathy with subcortical cysts Is a True Macroencephaly 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 Macroencephaly Inferred relationship Some
Megalencephaly capillary malformation Is a True Macroencephaly Inferred relationship Some
Bilateral megalencephaly Is a True Macroencephaly Inferred relationship Some
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability, characterized by macrocephaly, intellectual disability, seizures, dysmorphic facial features (including tall forehead, downslanting palpebral fissures, hypertelorism, depressed nasal bridge, and macrostomia), megalencephaly, and small thorax. Other reported features are umbilical hernia, muscular hypotonia, global developmental delay, autistic behavior, and café-au-lait spots, among others. Is a True Macroencephaly Inferred relationship Some
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by overgrowth and macrocephaly with megalencephaly apparent at birth, global developmental delay, intellectual disability, and dysmorphic facial features (including frontal bossing, long face, sparse eyebrows, hypertelorism, downslanting palpebral fissures, and prognathism). Patients may exhibit tall stature with dolichostenomelia, arachnodactyly, kyphoscoliosis, and joint laxity, as well as neurologic manifestations, such as hypotonia, gait ataxia, or seizures. Brain imaging may show increased white matter volume, thick corpus callosum, or small cerebellum. Is a True Macroencephaly Inferred relationship Some

Reference Sets

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