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41086002: Congenital smallness (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
68540011 Congenital smallness en Synonym Active Case insensitive SNOMED CT core
777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness Is a Growth alteration true Inferred relationship Some
Congenital smallness Is a Congenital growth alteration false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe neonatal onset encephalopathy with microcephaly Associated morphology False Congenital smallness Inferred relationship Some 1
MacDermot Winter syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Hall Riggs syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microtia Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
SOX2 anophthalmia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
MMEP syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Oculo-palato-cerebral syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Hennekam Beemer syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microlissencephaly micromelia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Jawad syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microspherophakia Associated morphology True Congenital smallness Inferred relationship Some 2
Microphthalmia with brain atrophy syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Say Barber Miller syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Coxoauricular syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Lowry Wood syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Seemanova Lesny syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Thrombocytopathy, asplenia and miosis Associated morphology False Congenital smallness Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephaly with brachydactyly and kyphoscoliosis syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Pseudoprogeria syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Microcephaly with albinism and digital anomaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephaly cardiomyopathy syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcornea with glaucoma and absent frontal sinus syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Cataract and microcornea syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephaly cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology True Congenital smallness Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type Associated morphology True Congenital smallness Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Micromelic dwarfism Fryns type Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmia with ankyloblepharon and intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Filippi syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Mikati Najjar Sahli syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Lowry MacLean syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Short rib polydactyly syndrome Saldino Noonan type Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus NOS Associated morphology False Congenital smallness Inferred relationship Some
Microphthalmos, unspecified Associated morphology False Congenital smallness Inferred relationship Some 1
Unspecified microphthalmos NOS Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos with other eye anomaly Associated morphology False Congenital smallness Inferred relationship Some 1
Microphthalmos NOS Associated morphology False Congenital smallness Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Macrosomia, microphthalmia, cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Autosomal dominant primary microcephaly Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with microvascular anastomosis Direct morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with flap Direct morphology True Congenital smallness Inferred relationship Some 1
Microphthalmos of right eye Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmos of left eye Associated morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with graft Direct morphology True Congenital smallness Inferred relationship Some 2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Occipital pachygyria and polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 1
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Reduction anomaly of hypothalamus Associated morphology False Congenital smallness Inferred relationship Some 1
Megacystis, microcolon, hypoperistalsis syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Seckel syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Diastrophic dysplasia Associated morphology True Congenital smallness Inferred relationship Some 2
Thrombocytopathy, asplenia and miosis Associated morphology True Congenital smallness Inferred relationship Some 5
Neu-Laxova syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Barber-Say syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Bilateral microphthalmos with congenital coloboma Associated morphology True Congenital smallness Inferred relationship Some 3
Bilateral microphthalmos with congenital coloboma Associated morphology True Congenital smallness Inferred relationship Some 4
Microcornea of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Some 1
Microcornea of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Some 2
Bilateral microphthalmos Associated morphology True Congenital smallness Inferred relationship Some 1
Bilateral microphthalmos Associated morphology True Congenital smallness Inferred relationship Some 2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle Associated morphology True Congenital smallness Inferred relationship Some 1
Bilateral frontal polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 1
Bilateral generalised polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 1
Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 2
Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephaly with simplified gyral pattern Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmos due to branchio-oculo-facial syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microlissencephaly Associated morphology True Congenital smallness Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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