1829003: Microcephalus (disorder)

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
microcéphalie	est un(e) (attribut)	Disorder of brain (disorder)	false	Inferred relationship	Some
microcéphalie	est un(e) (attribut)	Abnormality of neurogenesis	false	Inferred relationship	Some
microcéphalie	morphologie associée (attribut)	Congenital smallness	false	Inferred relationship	Some	1
microcéphalie	est un(e) (attribut)	Congenital and developmental anomalies of the nervous system	false	Inferred relationship	Some
microcéphalie	localisation d'une constatation (attribut)	Entire brain	false	Inferred relationship	Some	1
microcéphalie	morphologie associée (attribut)	Congenital smallness	false	Inferred relationship	Some	2
microcéphalie	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some	2
microcéphalie	survenue (attribut)	congénital	false	Inferred relationship	Some
microcéphalie	morphologie associée (attribut)	Congenital smallness	false	Inferred relationship	Some
microcéphalie	localisation d'une constatation (attribut)	structure de l'encéphale	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
syndrome de Jawad	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Autosomal dominant primary microcephaly	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Reduction anomaly of hypothalamus	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
nanisme à tête d'oiseau	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly with simplified gyral pattern	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microlissencephaly	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Neu-Laxova syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Hydromicrocephaly	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Fetal microcephaly (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Micrencephaly	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus NOS	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Amish lethal microcephaly (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly-capillary malformation syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Family history of microcephaly	constatation associée (attribut)	False	microcéphalie	Inferred relationship	Some	1
microgyrie (trouble)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
microcéphalie-microcornée type Seemanova	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly with deafness and intellectual disability syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Autosomal recessive primary microcephaly (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Achalasia microcephaly syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus with albinism and digital anomaly syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus cardiomyopathy syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus cleft palate syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Hadziselimovic syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Anonychia with microcephaly syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Aphalangy and syndactyly with microcephaly syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Filippi syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Hall Riggs syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Goldberg Shprintzen megacolon syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Lowry MacLean syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Oculopalatocerebral syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Oculocerebrofacial syndrome Kaufman type (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
syndrome de pseudo-infection intra-utérine congénitale	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Severe X-linked intellectual disability Gustavson type (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Renier Gabreels Jasper syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Stimmler syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Pseudoprogeria syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, digital anomaly, intellectual disability syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Deficiency of leukotriene C4 synthase (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
microcéphalie autosomique dominante bénigne	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
microcéphalie secondaire	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
microcéphalie primitive	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Oro-facial digital syndrome type 14	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic primordial dwarfism Montreal type	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic primordial dwarfism Alazami type (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalic primordial dwarfism Dauber type	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
atrophie cérébrale et cérébelleuse infantile avec microcéphalie postnatale progressive	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some
Severe neonatal onset encephalopathy with microcephaly (disorder)	est un(e) (attribut)	False	microcéphalie	Inferred relationship	Some

Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
194841000077112	microcéphalie	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
3389002013	Microcéphalie	fr	Synonym (core metadata concept)	Inactive	Entire term case sensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
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
471621000077110	microcéphalie (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
745690018	Microcephalus (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core