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41086002: Congenital smallness (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness Is a Congenital growth alteration false Inferred relationship Existential restriction modifier
Congenital smallness Is a Growth alteration true Inferred relationship Existential restriction modifier
Inbound Relationships Type Active Source Characteristic Refinability Group
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Pseudoprogeria syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalus, lymphedema, chorioretinopathy syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus, digital anomaly, intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
3-phosphoglycerate dehydrogenase deficiency infantile form Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Deficiency of leukotriene C4 synthase Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Reconstruction of microtia with free flap Direct morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microphthalmic socket Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Spastic ataxia with congenital miosis Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Sporadic fetal brain disruption sequence Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos co-occurrent with congenital ocular coloboma Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 14 Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Microcephalus, complex motor and sensory axonal neuropathy syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Cleft palate, large ears, small head syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Oro-facial digital syndrome type 14 Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Bilateral polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalic primordial dwarfism Montreal type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Nijmegen breakage syndrome-like disorder Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Autosomal recessive chorioretinopathy and microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus, brain defect, spasticity, hypernatremia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalic primordial dwarfism Dauber type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalic primordial dwarfism Alazami type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephaly, thin corpus callosum, intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Polymicrogyria with optic nerve hypoplasia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Severe neonatal onset encephalopathy with microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Prominent glabella with microcephaly and hypogenitalism syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Hall Riggs syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microtia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
SOX2 anophthalmia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Goldberg Shprintzen megacolon syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Microspherophakia with metaphyseal dysplasia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Oculopalatocerebral syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microlissencephaly micromelia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Jawad syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Bilateral microtia with deafness and cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephaly with deafness and intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microspherophakia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microphthalmia with brain atrophy syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Coxoauricular syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus microcornea syndrome of Seemanova type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Thrombocytopathy, asplenia and miosis Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Arrhinia with choanal atresia and microphthalmia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus with brachydactyly and kyphoscoliosis syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Pseudoprogeria syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus cardiomyopathy syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Bilateral microtia with deafness and cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcornea with glaucoma and absent frontal sinus syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Cataract and microcornea syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Hypertelorism with microtia and facial clefting syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Severe X-linked intellectual disability Gustavson type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Thickened earlobe with conductive deafness syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmia with ankyloblepharon and intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Filippi syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Lowry MacLean syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Short rib polydactyly syndrome type I Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Macrosomia, microphthalmia, cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
THO complex 6-related developmental delay, microcephaly, facial dysmorphism syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Flat face, microstomia, ear anomaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Autosomal dominant primary microcephaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Reconstruction of microtia with microvascular anastomosis Direct morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Reconstruction of microtia with flap Direct morphology True Congenital smallness Inferred relationship Existential restriction modifier 1

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