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1148757008: Microcephaly (finding)

Status: current, Defined. Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4551751014 Microcephaly (finding) en Fully specified name Active Case insensitive SNOMED CT core
4551752019 Microcephalus en Synonym Active Case insensitive SNOMED CT core
4551753012 Microcephaly en Synonym Active Case insensitive 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 Case sensitive SNOMED CT core

114 descendants. Search Descendants:

Expanded Value Set

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

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Unit of use quantity reference set

Description inactivation indicator reference set

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