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1148758003: Congenital microcephaly (disorder)

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
4551756016 Congenital microcephalus en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551757013 Congenital microcephaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551758015 Congenital microcephaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
4551759011 A rare neurological disorder with characteristics of reduced head circumference at birth with no gross anomalies of brain structure. It can be an isolated finding or it can be associated with seizures, developmental delay, intellectual disability, balance disturbances, hearing loss or vision problems. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

78 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital microcephaly (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Congenital microcephaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Congenital microcephaly (disorder) a pour interprétation (attribut) au-dessous de l'étendue de référence true Inferred relationship Some 2
Congenital microcephaly (disorder) morphologie associée (attribut) Congenital smallness true Inferred relationship Some 1
Congenital microcephaly (disorder) est un(e) (attribut) Congenital anomaly of head true Inferred relationship Some
Congenital microcephaly (disorder) localisation d'une constatation (attribut) structure de la tête true Inferred relationship Some 1
Congenital microcephaly (disorder) est un(e) (attribut) Microcephaly (finding) true Inferred relationship Some
Congenital microcephaly (disorder) interprète (attribut) Birth head circumference true Inferred relationship Some 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Family history of congenital microcephaly constatation associée (attribut) True Congenital microcephaly (disorder) Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Amish lethal microcephaly (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Achalasia microcephaly syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Stimmler syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Anonychia with microcephaly syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Aphalangy and syndactyly with microcephaly syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Autosomal dominant primary microcephaly est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Cleft palate, large ears, small head syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
syndrome de pseudo-infection intra-utérine congénitale est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Autosomal recessive primary microcephaly (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Goldberg Shprintzen megacolon syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Filippi syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Hydromicrocephaly est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Hall Riggs syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
syndrome de Jawad est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
syndrome d'agénésie du corps calleux-microcéphalie-petite taille est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism Alazami type (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism Dauber type est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Lowry MacLean syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism Montreal type est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus cardiomyopathy syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus cleft palate syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism of Toriello type (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Hadziselimovic syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
microcéphalie-microcornée type Seemanova est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus with albinism and digital anomaly syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, complex motor and sensory axonal neuropathy syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly with deafness and intellectual disability syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalus, lymphedema, chorioretinopathy syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly with simplified gyral pattern est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly-capillary malformation syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Neu-Laxova syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Nijmegen breakage syndrome-like disorder (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Oculocerebrofacial syndrome Kaufman type (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Oro-facial digital syndrome type 14 est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Oculopalatocerebral syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
nanisme à tête d'oiseau est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Pseudoprogeria syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Severe X-linked intellectual disability Gustavson type (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic osteodysplastic primordial dwarfism type II est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some
19p13.3 microduplication syndrome (disorder) est un(e) (attribut) True Congenital microcephaly (disorder) Inferred relationship Some

Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

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