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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
Coxoauricular syndrome Associated morphology False Congenital smallness Inferred relationship Some 4
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Congenital smallness Inferred relationship Some 5
Stimmler syndrome Associated morphology False Congenital smallness Inferred relationship Some 5
Stimmler syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Associated morphology False Congenital smallness Inferred relationship Some 5
Pseudoprogeria syndrome Associated morphology False Congenital smallness Inferred relationship Some 5
Microstomia Associated morphology True Congenital smallness Inferred relationship Some 1
Mikati Najjar Sahli syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephalus, lymphoedema, chorioretinopathy syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus, digital anomaly, intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital smallness Inferred relationship Some
3-phosphoglycerate dehydrogenase deficiency infantile form Associated morphology True Congenital smallness Inferred relationship Some 1
Deficiency of leukotriene C4 synthase Associated morphology False Congenital smallness Inferred relationship Some 2
Cross syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephalus Associated morphology False Congenital smallness Inferred relationship Some
Microcolon Associated morphology False Congenital smallness Inferred relationship Some 1
Dysplasia of eye Associated morphology False Congenital smallness Inferred relationship Some 2
Microcornea Associated morphology True Congenital smallness Inferred relationship Some 1
Microphakia Associated morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with free flap Direct morphology True Congenital smallness Inferred relationship Some 1
Microgyria Associated morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology False Congenital smallness Inferred relationship Some 2
Microphthalmic socket Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 1
Micromelia Associated morphology False Congenital smallness Inferred relationship Some 1
Jeune thoracic dystrophy Associated morphology False Congenital smallness Inferred relationship Some 2
Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Some
Hydromicrocephaly Associated morphology False Congenital smallness Inferred relationship Some
Congenital microgastria Associated morphology False Congenital smallness Inferred relationship Some 1
Hypoplasia of eye Associated morphology False Congenital smallness Inferred relationship Some 1
Spastic ataxia with congenital miosis Associated morphology True Congenital smallness Inferred relationship Some 2
Sporadic fetal brain disruption sequence Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital thread-like tail Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital microhepatia Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital narrowed tail Associated morphology False Congenital smallness Inferred relationship Some 1
Congenital small anus Associated morphology True Congenital smallness Inferred relationship Some 1
Colobomatous microphthalmia Associated morphology True Congenital smallness Inferred relationship Some 2
Oro-facial digital syndrome type 14 Associated morphology False Congenital smallness Inferred relationship Some 4
Microcephalus, complex motor and sensory axonal neuropathy syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Cleft palate, large ears, small head syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Oro-facial digital syndrome type 14 Associated morphology True Congenital smallness Inferred relationship Some 1
Microdactyly Associated morphology False Congenital smallness Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Bilateral polymicrogyria Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalic primordial dwarfism Montreal type Associated morphology True Congenital smallness Inferred relationship Some 2
Nijmegen breakage syndrome-like disorder Associated morphology True Congenital smallness Inferred relationship Some 1
Congenitally small punctum lacrimale Associated morphology True Congenital smallness Inferred relationship Some 1
Autosomal recessive chorioretinopathy and microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus, brain defect, spasticity, hypernatraemia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalic primordial dwarfism Dauber type Associated morphology True Congenital smallness Inferred relationship Some 2
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalic primordial dwarfism Alazami type Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephaly, thin corpus callosum, intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly Associated morphology False Congenital smallness Inferred relationship Some 1
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
Polymicrogyria with optic nerve hypoplasia Associated morphology True Congenital smallness Inferred relationship Some 2
Micrencephaly Associated morphology False Congenital smallness Inferred relationship Some
Simple microphthalmos Associated morphology False Congenital smallness Inferred relationship Some 1

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Reference Sets

Body structure foundation reference set

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