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169876006: Birth head circumference (observable entity)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
263504010 Birth head circumference en Synonym Active Case insensitive SNOMED CT core
551763018 Birth head circumference (observable entity) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Birth head circumference Finding site Structure of head false Inferred relationship Some
Birth head circumference Is a Head circumference true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Birth head circumference = > 97th centile Interprets True Birth head circumference Inferred relationship Some 2
Congenital microcephaly Interprets True Birth head circumference Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Interprets True Birth head circumference Inferred relationship Some 5
Amish lethal microcephaly Interprets True Birth head circumference Inferred relationship Some 3
Achalasia microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 4
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Interprets True Birth head circumference Inferred relationship Some 5
Stimmler syndrome Interprets True Birth head circumference Inferred relationship Some 6
3-phosphoglycerate dehydrogenase deficiency infantile form Interprets True Birth head circumference Inferred relationship Some 2
Autosomal recessive chorioretinopathy and microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 4
Anonychia with microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 3
Aphalangy and syndactyly with microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 4
Autosomal dominant primary microcephaly Interprets True Birth head circumference Inferred relationship Some 2
Cleft palate, large ears, small head syndrome Interprets True Birth head circumference Inferred relationship Some 4
Congenital intrauterine infection-like syndrome Interprets True Birth head circumference Inferred relationship Some 3
Hennekam Beemer syndrome Interprets True Birth head circumference Inferred relationship Some 6
Autosomal recessive primary microcephaly Interprets True Birth head circumference Inferred relationship Some 2
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Interprets True Birth head circumference Inferred relationship Some 3
Epilepsy, microcephaly, skeletal dysplasia syndrome Interprets True Birth head circumference Inferred relationship Some 5
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 4
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 5
Lowry Wood syndrome Interprets True Birth head circumference Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome Interprets True Birth head circumference Inferred relationship Some 7
Filippi syndrome Interprets True Birth head circumference Inferred relationship Some 5
Hydromicrocephaly Interprets True Birth head circumference Inferred relationship Some 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Interprets True Birth head circumference Inferred relationship Some 8
Hall Riggs syndrome Interprets True Birth head circumference Inferred relationship Some 4
Jawad syndrome Interprets True Birth head circumference Inferred relationship Some 3
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Interprets True Birth head circumference Inferred relationship Some 4
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Interprets True Birth head circumference Inferred relationship Some 4
Microcephalic primordial dwarfism Alazami type Interprets True Birth head circumference Inferred relationship Some 4
Microcephalic primordial dwarfism Dauber type Interprets True Birth head circumference Inferred relationship Some 4
Lowry MacLean syndrome Interprets True Birth head circumference Inferred relationship Some 5
Microcephalic osteodysplastic dysplasia Saul Wilson type Interprets True Birth head circumference Inferred relationship Some 5
Microcephalic osteodysplastic primordial dwarfism types I and III Interprets True Birth head circumference Inferred relationship Some 4
Microcephalic primordial dwarfism Montreal type Interprets True Birth head circumference Inferred relationship Some 4
Microcephaly cardiomyopathy syndrome Interprets True Birth head circumference Inferred relationship Some 3
Microcephaly cleft palate syndrome Interprets True Birth head circumference Inferred relationship Some 4
Microcephalic primordial dwarfism Toriello type Interprets True Birth head circumference Inferred relationship Some 3
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Interprets True Birth head circumference Inferred relationship Some 6
Microcephaly with cervical spine fusion anomaly Interprets True Birth head circumference Inferred relationship Some 4
Seemanova Lesny syndrome Interprets True Birth head circumference Inferred relationship Some 1
Microcephaly with albinism and digital anomaly syndrome Interprets True Birth head circumference Inferred relationship Some 7
Microcephaly with brachydactyly and kyphoscoliosis syndrome Interprets True Birth head circumference Inferred relationship Some 6
Microcephaly with cardiac defect and lung malsegmentation syndrome Interprets True Birth head circumference Inferred relationship Some 4
Microcephalus, brain defect, spasticity, hypernatraemia syndrome Interprets True Birth head circumference Inferred relationship Some 4
Microcephalus, complex motor and sensory axonal neuropathy syndrome Interprets True Birth head circumference Inferred relationship Some 2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Interprets True Birth head circumference Inferred relationship Some 6
Mikati Najjar Sahli syndrome Interprets True Birth head circumference Inferred relationship Some 2
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Interprets True Birth head circumference Inferred relationship Some 4
Say Barber Miller syndrome Interprets True Birth head circumference Inferred relationship Some 4
Microcephaly with deafness and intellectual disability syndrome Interprets True Birth head circumference Inferred relationship Some 5
Microcephalus, lymphoedema, chorioretinopathy syndrome Interprets True Birth head circumference Inferred relationship Some 2
Microcephaly with simplified gyral pattern Interprets True Birth head circumference Inferred relationship Some 3
Microcephaly, seizure, intellectual disability, heart disease syndrome Interprets True Birth head circumference Inferred relationship Some 3
MMEP syndrome Interprets True Birth head circumference Inferred relationship Some 1
Microcephaly-capillary malformation syndrome Interprets True Birth head circumference Inferred relationship Some 3
Neu-Laxova syndrome Interprets True Birth head circumference Inferred relationship Some 5
Nijmegen breakage syndrome-like disorder Interprets True Birth head circumference Inferred relationship Some 4
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Interprets True Birth head circumference Inferred relationship Some 3
Oculocerebrofacial syndrome Kaufman type Interprets True Birth head circumference Inferred relationship Some 4
Oro-facial digital syndrome type 14 Interprets True Birth head circumference Inferred relationship Some 7
Oculo-palato-cerebral syndrome Interprets True Birth head circumference Inferred relationship Some 4
MacDermot Winter syndrome Interprets True Birth head circumference Inferred relationship Some 4
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Interprets True Birth head circumference Inferred relationship Some 3
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Interprets True Birth head circumference Inferred relationship Some 4
Seckel syndrome Interprets True Birth head circumference Inferred relationship Some 4
Radioulnar synostosis with microcephaly and scoliosis syndrome Interprets True Birth head circumference Inferred relationship Some 6
Pseudoprogeria syndrome Interprets True Birth head circumference Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Interprets True Birth head circumference Inferred relationship Some 2
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Interprets True Birth head circumference Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type Interprets True Birth head circumference Inferred relationship Some 5
TELO2-related intellectual disability, neurodevelopmental disorder Interprets True Birth head circumference Inferred relationship Some 3
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Interprets True Birth head circumference Inferred relationship Some 5
Microcephalic cortical malformations, short stature due to RTTN deficiency Interprets True Birth head circumference Inferred relationship Some 3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Interprets True Birth head circumference Inferred relationship Some 4
Microcephalic osteodysplastic primordial dwarfism type II Interprets True Birth head circumference Inferred relationship Some 3
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Interprets True Birth head circumference Inferred relationship Some 5
Microcephalic primordial dwarfism, insulin resistance syndrome Interprets True Birth head circumference Inferred relationship Some 3
RNF13-related severe early-onset epileptic encephalopathy Interprets True Birth head circumference Inferred relationship Some 2
19p13.3 microduplication syndrome Interprets True Birth head circumference Inferred relationship Some 4
DONSON-related microcephaly, short stature, limb abnormalities spectrum Interprets True Birth head circumference Inferred relationship Some 3
NDE1-related microhydranencephaly Interprets True Birth head circumference Inferred relationship Some 5
Cerebellar-facial-dental syndrome Interprets True Birth head circumference Inferred relationship Some 5
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Interprets True Birth head circumference Inferred relationship Some 8

Reference Sets

Observable entity foundation reference set

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