1829003: microcefalie (aandoening)

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
microcefalie	Is a	Abnormality of neurogenesis	false	Inferred relationship	Some
microcefalie	Occurrence	Congenital	false	Inferred relationship	Some
microcefalie	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some
microcefalie	Finding site	Brain structure	false	Inferred relationship	Some
microcefalie	Is a	Disorder of brain (disorder)	false	Inferred relationship	Some
microcefalie	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	1
microcefalie	Is a	congenitale afwijking van zenuwstelsel (aandoening)	false	Inferred relationship	Some
microcefalie	Finding site	Entire brain	false	Inferred relationship	Some	1
microcefalie	Associated morphology	congenitale kleinheid	false	Inferred relationship	Some	2
microcefalie	Finding site	Brain structure	false	Inferred relationship	Some	2
microcefalie	Is a	Developmental anomaly of brain	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
benigne autosomaal dominante microcefalie	Is a	False	microcefalie	Inferred relationship	Some
Secondary microcephaly	Is a	False	microcefalie	Inferred relationship	Some
microcephalia vera	Is a	False	microcefalie	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	Is a	False	microcefalie	Inferred relationship	Some
Neu-Laxova syndrome	Is a	False	microcefalie	Inferred relationship	Some
Hydromicrocephaly	Is a	False	microcefalie	Inferred relationship	Some
Micrencephaly	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus NOS	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia	Is a	False	microcefalie	Inferred relationship	Some
Fetal microcephaly (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Amish lethal microcephaly (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	Is a	False	microcefalie	Inferred relationship	Some
Family history of microcephaly	Associated finding	False	microcefalie	Inferred relationship	Some	1
Microgyria	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus microcornea syndrome of Seemanova type (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Autosomal recessive primary microcephaly (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Achalasia microcephaly syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus with albinism and digital anomaly syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Hadziselimovic syndrome	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Is a	False	microcefalie	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Filippi syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Hall Riggs syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Congenital intrauterine infection-like syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Renier-Gabreels-Jasper-syndroom	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Stimmler syndrome	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, digital anomaly, intellectual disability syndrome	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	False	microcefalie	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	Is a	False	microcefalie	Inferred relationship	Some
Oro-facial digital syndrome type 14	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic primordial dwarfism Montreal type	Is a	False	microcefalie	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	Is a	False	microcefalie	Inferred relationship	Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	Is a	False	microcefalie	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Jawad syndrome	Is a	False	microcefalie	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	Is a	False	microcefalie	Inferred relationship	Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	Is a	False	microcefalie	Inferred relationship	Some
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Autosomal dominant primary microcephaly	Is a	False	microcefalie	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	Is a	False	microcefalie	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	Is a	False	microcefalie	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	Is a	False	microcefalie	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	Is a	False	microcefalie	Inferred relationship	Some
Reduction anomaly of hypothalamus	Is a	False	microcefalie	Inferred relationship	Some
Seckel syndrome	Is a	False	microcefalie	Inferred relationship	Some
Microcephaly with simplified gyral pattern	Is a	False	microcefalie	Inferred relationship	Some
Microlissencephaly	Is a	False	microcefalie	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4159010	Microcephalus	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4160017	Microcephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4161018	Micrencephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4162013	Nanocephaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
745690018	Microcephalus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
65801000146115	microcefalie	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
921761000146110	microcefalie (aandoening)	nl	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7586861000146113	Dit is een abnormaal kleine schedelomvang, en kan zowel ontstaan door ziekte als aangeboren zijn.	nl	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)