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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
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microlissencephaly micromelia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic primordial dwarfism due to zinc finger protein 335 deficiency (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic osteodysplastic primordial dwarfism types I and III (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Short rib polydactyly syndrome type I (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Coxoauricular syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Stimmler syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Pseudoprogeria syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcornea Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalic primordial dwarfism of Toriello type (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Unilateral polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Autosomal recessive primary microcephaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcornea with corectopia and macular hypoplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Nanophthalmia (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Reconstruction of microtia with free flap (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Reconstruction of microtia with free flap and microvascular anastomosis Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalus, lymphedema, chorioretinopathy syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmic socket (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Thrombocytopathy, asplenia and miosis (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 5
Congenital microgastria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Autosomal dominant primary microcephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Occipital pachygyria and polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Microphthalmos of right eye Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmos of left eye Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Reconstruction of microtia with flap (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Reconstruction of microtia with microvascular anastomosis (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Reconstruction of microtia with graft (procedure) Direct morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microphthalmos Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral frontal polymicrogyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral generalized polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral parasagittal parieto-occipital polymicrogyria Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microphthalmos due to Fryns syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmos due to Delleman syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Micromelic dwarfism Fryn type Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephaly with simplified gyral pattern Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microphthalmos due to branchio-oculo-facial syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microlissencephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Macrocephaly, intellectual disability, neurodevelopmental disorder, small thorax syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Colobomatous macrophthalmia with microcornea syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephalic osteodysplastic primordial dwarfism type II Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Cerebellar-facial-dental syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
NDE1-related microhydranencephaly Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital microcephaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital microencephaly (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Microcephalic primordial dwarfism, insulin resistance syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
19p13.3 microduplication syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Isolated microspherophakia (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Microphthalmia, microtia, fetal akinesia syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
Syndromic nanophthalmos due to Kenny-Caffey syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
DNA replication fork stabilization factor DONSON-related microcephaly, short stature, limb abnormalities spectrum (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital cataract microcornea with corneal opacity Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Short rib polydactyly syndrome type 5 Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 2
Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 3
Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 4
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Congenital pontocerebellar hypoplasia type 14 Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder) Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
AMeD syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1
CIMDAG syndrome Associated morphology True Abnormal smallness (morphologic abnormality) Inferred relationship Some 1

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