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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

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 Some 1
Microcephaly (finding) Interprets Head circumference true Inferred relationship Some 1
Microcephaly (finding) Is a Finding of head circumference true Inferred relationship Some
Microcephaly (finding) Finding site Head structure true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital microcephaly (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Family history of microcephaly Associated finding True Microcephaly (finding) Inferred relationship Some 1
Secondary microcephaly Is a True Microcephaly (finding) Inferred relationship Some
Fetal microcephaly (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Deficiency of leukotriene C4 synthase (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Is a True Microcephaly (finding) Inferred relationship Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Severe neonatal onset encephalopathy with microcephaly (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Child HC < 0.4th centile Is a True Microcephaly (finding) Inferred relationship Some
Child HC = 0.4th centile Is a True Microcephaly (finding) Inferred relationship Some
Child HC 0.5th - 1.9th centile Is a True Microcephaly (finding) Inferred relationship Some
Child HC = 2nd centile Is a True Microcephaly (finding) Inferred relationship Some
Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Microcephaly, congenital cataract, psoriasiform dermatitis syndrome Is a True Microcephaly (finding) Inferred relationship Some
Severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Progressive microcephaly, seizures, cortical blindness, developmental delay syndrome Is a True Microcephaly (finding) Inferred relationship Some
Christianson syndrome Is a True Microcephaly (finding) Inferred relationship Some
Postnatal microcephaly, infantile hypotonia, spastic diplegia, dysarthria, intellectual disability syndrome Is a True Microcephaly (finding) Inferred relationship Some
Intrauterine growth restriction, congenital multiple café au lait macules, increased sister chromatid exchange syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Severe neurodevelopmental disorder with feeding difficulties, stereotypic hand movement, bilateral cataract Is a True Microcephaly (finding) Inferred relationship Some
Congenital ichthyosis, microcephalus, tetraplegia syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Sanjad Sakati syndrome (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Progressive cerebello-cerebral atrophy (disorder) Is a True Microcephaly (finding) Inferred relationship Some
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement Is a True Microcephaly (finding) Inferred relationship Some
Phospholipase A2 activating protein-associated neurodevelopmental disorder (disorder) Is a True Microcephaly (finding) Inferred relationship Some
Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome Is a True Microcephaly (finding) Inferred relationship Some
PYCR2-related microcephaly, progressive leucoencephalopathy Is a True Microcephaly (finding) Inferred relationship Some
Fatty acyl-coenzyme A reductase 1 deficiency (disorder) Is a True Microcephaly (finding) Inferred relationship Some
USP18 deficiency Is a True Microcephaly (finding) Inferred relationship Some
Menke Hennekam syndrome Is a True Microcephaly (finding) Inferred relationship Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome Is a True Microcephaly (finding) Inferred relationship Some
Congenital pontocerebellar hypoplasia type 11 (disorder) Is a True Microcephaly (finding) Inferred relationship Some

This concept is not in any reference sets

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