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41086002: Congenital smallness (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module
68540011 Congenital smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
777834016 Congenital smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1298491000052113 medfödd liten kroppsform sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness Is a medfödd tillväxtförändring false Inferred relationship Some
Congenital smallness Is a Growth alteration true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenitally small punctum lacrimale Associated morphology False Congenital smallness Inferred relationship Some 4
Microspherophakia (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Fetal microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Congenital bilateral perisylvian syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Thrombocytopathy, asplenia and miosis (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
benign autosomalt dominant mikrocefali Associated morphology False Congenital smallness Inferred relationship Some 2
primär mikrocefali Associated morphology False Congenital smallness Inferred relationship Some 2
mikrocefal osteodysplastisk dysplasi Associated morphology False Congenital smallness Inferred relationship Some 1
mikrocefali Associated morphology False Congenital smallness Inferred relationship Some 2
Secondary microcephaly Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephaly-capillary malformation syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Amish lethal microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 4
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalic primordial dwarfism of Toriello type (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
SOX2 anophthalmia syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
mikromeli enligt Fryn Associated morphology False Congenital smallness Inferred relationship Some 4
okulocerebralt dysplastiskt syndrom Associated morphology False Congenital smallness Inferred relationship Some 2
Nanophthalmia (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Autosomal recessive primary microcephaly (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Unilateral polymicrogyria (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Micromelia Associated morphology False Congenital smallness Inferred relationship Some 4
Achalasia microcephaly syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Microcephalus cardiomyopathy syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
syndrom med mikrocefali, intellektuell funktionsnedsättning samt falangeal och neurologisk anomali Associated morphology False Congenital smallness Inferred relationship Some 5
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 8
Microcephalus cleft palate syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 12
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Hadziselimovic syndrome Associated morphology False Congenital smallness Inferred relationship Some 7
Microphthalmia with brain atrophy syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Anonychia with microcephaly syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Anonychia with microcephaly syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Filippi syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Hall Riggs syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Microphthalmia with linear skin defect syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microtia Associated morphology False Congenital smallness Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 7
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Microphthalmia with linear skin defect syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Lowry MacLean syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Unilateral polymicrogyria (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Hypertelorism with microtia and facial clefting syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Oculocerebrofacial syndrome Kaufman type (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Congenital intrauterine infection-like syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Oculopalatocerebral syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Cataract and microcornea syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Congenital intrauterine infection-like syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 9
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 7
Severe X-linked intellectual disability Gustavson type (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Microlissencephaly micromelia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 7
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Renier-Gabreels-Jaspers syndrom Associated morphology False Congenital smallness Inferred relationship Some 2
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Renier-Gabreels-Jaspers syndrom Associated morphology False Congenital smallness Inferred relationship Some 3
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephalic primordial dwarfism of Toriello type (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 6
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology False Congenital smallness Inferred relationship Some 4
Hyposmia, nasal and ocular hypoplasia, hypogonadotropic hypogonadism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Coxoauricular syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 4
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) 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

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