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1148757008: Microcephaly (finding)

Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4551751014 Microcephaly (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551752019 Microcephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551753012 Microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551755017 Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4551751014 Microcephaly (finding) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551752019 Microcephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551753012 Microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551755017 Occipitofrontal circumference of between two and equal to or greater than five standard deviations below the mean for age, sex, and gestation. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
956691000195116 microcefalia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
421581000274112 Mikrozephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
496561000274116 Mikrozephalus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
501501000274119 Microcephalus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5601981000241111 microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5601981000241111 microcéphalie fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
956691000195116 microcefalia it Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
421581000274112 Mikrozephalie de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
496561000274116 Mikrozephalus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
501501000274119 Microcephalus de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

124 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephaly (finding) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly (finding) Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 1
Microcephaly (finding) Is a Finding of head circumference (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly (finding) Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital microcephaly (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Family history of microcephaly (situation) Associated finding True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept) 1
Secondary microcephaly Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Fetal microcephaly (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Deficiency of leukotriene C4 synthase Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neonatal onset encephalopathy with microcephaly Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Child HC < 0.4th centile Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Child HC = 0.4th centile Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Child HC 0.5th - 1.9th centile Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Child HC = 2nd centile Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
X-linked intellectual developmental disorder Christianson type (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Sanjad Sakati syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Progressive cerebello-cerebral atrophy (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Inosine triphosphate pyrophosphohydrolase-related lethal infantile neurological disorder with cataract and cardiac involvement (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic neurological disorder characterized by infantile onset of progressive leukoencephalopathy, microcephaly, severe global developmental delay, and spasticity resulting in quadriparesis and posture deformation. Additional features include an abnormally exaggerated startle reflex, seizures, dystonia, and hypomimia or amimia, as well as progressive chest deformities and contractures of large and hyperextensibility of small joints, among others. Thin corpus callosum is a prominent feature in brain imaging, in addition to white matter abnormalities consistent with leukoencephalopathy. Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Ubiquitin specific peptidase 18 deficiency (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Menke Hennekam syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Microcephaly (finding) Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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