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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
Reconstruction of microtia with flap Direct morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos of right eye Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos of left eye Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Reconstruction of microtia with graft Direct morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Occipital pachygyria and polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Reduction anomaly of hypothalamus Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Megacystis, microcolon, hypoperistalsis syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Seckel syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Diastrophic dysplasia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Thrombocytopathy, asplenia and miosis Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 5
Neu-Laxova syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Barber-Say syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Microcornea of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcornea of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microphthalmos of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos of bilateral eyes Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Bilateral frontal polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Bilateral frontoparietal polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Bilateral generalized polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Bilateral frontoparietal polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephaly with simplified gyral pattern Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos due to branchio-oculo-facial syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microlissencephaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos due to Fryns syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos due to Delleman syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Micromelic dwarfism Fryn type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Congenital microcephaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Jawad syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Congenital microencephaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Lissencephaly type 3 familial fetal akinesia sequence syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Colobomatous macrophthalmia with microcornea syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalic cortical malformations, short stature due to rotatin deficiency Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalic osteodysplastic primordial dwarfism type II Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalic primordial dwarfism, insulin resistance syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Ring finger protein 13-related severe early-onset epileptic encephalopathy Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
19p13.3 microduplication syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Isolated microspherophakia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Syndromic nanophthalmos due to Kenny-Caffey syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
nudE neurodevelopment protein 1-related microhydranencephaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Cerebellar-facial-dental syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Lenz microphthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Congenital bilateral perisylvian syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Unspecified microphthalmos NOS Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos, unspecified Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos NOS Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Microphthalmos with other eye anomaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1

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