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1303834006: Abnormal smallness (morphologic abnormality)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Mar 2024. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5308066018 Abnormal smallness (morphologic abnormality) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5308067010 Abnormal smallness en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Abnormal smallness (morphologic abnormality) Is a Growth alteration true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Microstomia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Neu-Laxova syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Seckel syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Diastrophic dysplasia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Congenital microhepatia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital small anus Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenitally small punctum lacrimale Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphakia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcolon Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Dysplasia of eye (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Congenital microcheilia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Simple microphthalmos Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Megacystis, microcolon, hypoperistalsis syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microgyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Micromelia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Hydromicrocephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Barber-Say syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Lenz microphthalmia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital bilateral perisylvian syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Microcornea of bilateral eyes (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcornea of bilateral eyes (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Bilateral microphthalmos Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral microphthalmos Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
SOX2 anophthalmia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Uterus parvicollis Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital deafness with labyrinthine aplasia, microtia and microdontia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Amish lethal microcephaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephaly-capillary malformation syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic primordial dwarfism Alazami type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalic primordial dwarfism Dauber type Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Cleft palate, large ears, small head syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Spastic ataxia with congenital miosis Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalus, complex motor and sensory axonal neuropathy syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Oro-facial digital syndrome type 14 Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Bilateral polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic primordial dwarfism Montreal type Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Nijmegen breakage syndrome-like disorder (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Polymicrogyria with optic nerve hypoplasia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Jawad syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Macrosomia, microphthalmia, cleft palate syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital miosis (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microtia Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Achalasia microcephaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalus with albinism and digital anomaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microcephalus cardiomyopathy syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalus cleft palate syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Hadziselimovic syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microphthalmia with brain atrophy syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Anonychia with microcephaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Filippi syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Hall Riggs syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmia with linear skin defect syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Congenital microgastria with limb reduction defect syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Lowry MacLean syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Isotretinoin embryopathy-like syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Oculopalatocerebral syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Oculocerebrofacial syndrome Kaufman type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital intrauterine infection-like syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2

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