FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 4.0.1  |  FHIR Version n/a  User: [n/a]

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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness Is a Congenital growth alteration false Inferred relationship Some
Congenital smallness Is a Growth alteration true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Stimmler syndrome Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Pseudoprogeria syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 5
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 3
Microcephalus, lymphedema, 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
3-phosphoglycerate dehydrogenase deficiency infantile form (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Deficiency of leukotriene C4 synthase (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Reconstruction of microtia with free flap (procedure) Direct 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 (disorder) Associated morphology True 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
Microphthalmos co-occurrent with congenital ocular coloboma (disorder) 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
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome Associated morphology True Congenital smallness Inferred relationship Some 4
Bilateral polymicrogyria (disorder) 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 (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Autosomal recessive chorioretinopathy and microcephaly syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder) 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 (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder) 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 (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephaly, short stature, intellectual disability, facial dysmorphism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
Polymicrogyria with optic nerve hypoplasia Associated morphology True Congenital smallness Inferred relationship Some 2
Severe neonatal onset encephalopathy with microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Hall Riggs syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microtia Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Congenital smallness Inferred relationship Some 1
SOX2 anophthalmia syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Oculopalatocerebral syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microlissencephaly micromelia syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Jawad syndrome Associated morphology False Congenital smallness Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microspherophakia (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microphthalmia with brain atrophy syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Coxoauricular syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
Thrombocytopathy, asplenia and miosis (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus cardiomyopathy syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Hadziselimovic syndrome Associated morphology True Congenital smallness Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital smallness Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Filippi syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Some 2
Lowry MacLean syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Macrosomia, microphthalmia, cleft palate syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 3
Autosomal dominant primary microcephaly Associated morphology True Congenital smallness Inferred relationship Some 1
Microphthalmia, retinitis pigmentosa, foveoschisis, optic disc drusen syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Associated morphology True Congenital smallness Inferred relationship Some 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) Associated morphology True Congenital smallness Inferred relationship Some 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome Associated morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with microvascular anastomosis (procedure) Direct morphology True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with flap (procedure) Direct morphology True Congenital smallness Inferred relationship Some 1

Start Previous Page 3 of 4 End

This concept is not in any reference sets

Back to Start