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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
Congenitally small punctum lacrimale Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Microspherophakia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Fetal microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Congenital bilateral perisylvian syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Thrombocytopathy, asplenia and miosis Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Benign autosomal dominant microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Primary microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalic osteodysplastic dysplasia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Secondary microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephaly-capillary malformation syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Amish lethal microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Prominent glabella with microcephaly and hypogenitalism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Microphthalmos co-occurrent with congenital ocular coloboma Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalus co-occurrent with cervical spine fusion anomaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalic primordial dwarfism of Toriello type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
SOX2 anophthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus microcornea syndrome of Seemanova type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus microcornea syndrome of Seemanova type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Oculocerebral dysplasia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Nanophthalmia Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephaly with deafness and intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Microcornea with glaucoma and absent frontal sinus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microphthalmia with ankyloblepharon and intellectual disability syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Aphalangy and syndactyly with microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Autosomal recessive primary microcephaly Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Unilateral polymicrogyria Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Micromelia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Achalasia microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Microcephalus with cardiac defect and lung malsegmentation syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Microcephalus cardiomyopathy syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microcephalus with cardiac defect and lung malsegmentation syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Microcephalus with brachydactyly and kyphoscoliosis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 8
Microcephalus cleft palate syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Microcephalus with albinism and digital anomaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 12
Microcornea with corectopia and macular hypoplasia syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microcephalus facio-cardio-skeletal syndrome Hadziselimovic type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 7
Microphthalmia with brain atrophy syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Anonychia with microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Aphalangy and syndactyly with microcephaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Anonychia with microcephaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Arrhinia with choanal atresia and microphthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Filippi syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Hall Riggs syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Short stature, pituitary and cerebellar defect and small sella turcica syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Microphthalmia with linear skin defect syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Congenital microgastria with limb reduction defect syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Microtia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Bilateral microtia with deafness and cleft palate syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 7
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Bilateral microtia with deafness and cleft palate syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Microphthalmia with linear skin defect syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Lowry MacLean syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Unilateral polymicrogyria Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Isotretinoin embryopathy-like syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Hypertelorism with microtia and facial clefting syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Oculocerebrofacial syndrome Kaufman type Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Congenital intrauterine infection-like syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Oculopalatocerebral syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Cataract and microcornea syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Congenital intrauterine infection-like syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Cutaneous mastocytosis, short stature, hearing loss syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 9
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Thickened earlobe with conductive deafness syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Goldberg Shprintzen megacolon syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 7
Severe X-linked intellectual disability Gustavson type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Microlissencephaly micromelia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 7
Microcephalic osteodysplastic dysplasia Saul Wilson type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Renier Gabreels Jasper syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Retinal degeneration, nanophthalmos, glaucoma syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Renier Gabreels Jasper syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Retinal degeneration, nanophthalmos, glaucoma syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalic primordial dwarfism of Toriello type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 3
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 6
Microspherophakia with metaphyseal dysplasia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology True Congenital smallness Inferred relationship Existential restriction modifier 2
Short rib polydactyly syndrome type I Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Coxoauricular syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 4
Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 5
Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier 3

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