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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

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital smallness est un(e) (attribut) modification de la croissance true Inferred relationship Some
Congenital smallness est un(e) (attribut) Congenital growth alteration false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Severe neonatal onset encephalopathy with microcephaly (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Hall Riggs syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
microtie (trouble) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
SOX2 anophthalmia syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Goldberg Shprintzen megacolon syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microcephaly, microphthalmia, ectrodactyly of lower limbs and prognathism syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microspherophakia with metaphyseal dysplasia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Oculopalatocerebral syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microlissencephaly micromelia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
syndrome de Jawad morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Juvenile cataract, microcornea, renal glucosuria syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Short stature, pituitary and cerebellar defect and small sella turcica syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephaly with deafness and intellectual disability syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microspherophakia (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microphthalmia with brain atrophy syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Coxoauricular syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Epiphyseal dysplasia, microcephalus, nystagmus syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
microcéphalie-microcornée type Seemanova morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Thrombocytopathy, asplenia and miosis (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Arrhinia with choanal atresia and microphthalmia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Pseudoprogeria syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Microcephalus with albinism and digital anomaly syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalic osteodysplastic dysplasia Saul Wilson type (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalus cardiomyopathy syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Bilateral microtia with deafness and cleft palate syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcornea with glaucoma and absent frontal sinus syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Cataract and microcornea syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
syndrome d'agénésie du corps calleux-microcéphalie-petite taille morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Hypertelorism with microtia and facial clefting syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Epilepsy, microcephaly, skeletal dysplasia syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Radioulnar synostosis with microcephaly and scoliosis syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcephalus cleft palate syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Hadziselimovic syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Severe X-linked intellectual disability Gustavson type (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Thickened earlobe with conductive deafness syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Micromelic spondyloepimetaphyseal dysplasia (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmia with ankyloblepharon and intellectual disability syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Filippi syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalus, hypergonadotropic hypogonadism, short stature syndrome (disorder) morphologie associée (attribut) False Congenital smallness Inferred relationship Some 2
Lowry MacLean syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Short rib polydactyly syndrome type I (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephalus NOS morphologie associée (attribut) False Congenital smallness Inferred relationship Some
Microphthalmos, unspecified morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Unspecified microphthalmos NOS morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos with other eye anomaly morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microphthalmos NOS morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Macrosomia, microphthalmia, cleft palate syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
syndrome d'hypogonadisme hypogonadotrope-microcéphalie sévère-surdité neurosensorielle-dysmorphie morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Flat face, microstomia, ear anomaly syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microcornea, posterior megalolenticonus, persistent fetal vasculature, coloboma syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Frontonasal dysplasia, severe microphthalmia, severe facial clefting syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Autosomal dominant primary microcephaly morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
syndrome de microphtalmie-rétinite pigmentaire-fovéoschisis-drusen de la papille optique morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcornea, myopic chorioretinal atrophy, telecanthus syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome morphologie associée (attribut) 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
Microphthalmos of right eye morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmos of left eye morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Reconstruction of microtia with graft (procedure) Direct morphology True Congenital smallness Inferred relationship Some 2
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Occipital pachygyria and polymicrogyria (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Ichthyosis, short stature, brachydactyly, microspherophakia syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Reduction anomaly of hypothalamus morphologie associée (attribut) False Congenital smallness Inferred relationship Some 1
Megacystis, microcolon, hypoperistalsis syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
nanisme à tête d'oiseau morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Diastrophic dysplasia (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Thrombocytopathy, asplenia and miosis (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 5
Neu-Laxova syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Barber-Say syndrome (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 3
Microphthalmos co-occurrent with congenital ocular coloboma of bilateral eyes (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 4
Microcornea of bilateral eyes (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microcornea of bilateral eyes (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Bilateral microphthalmos morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Bilateral microphthalmos morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Common atrioventricular valve with unbalanced commitment of valve to right ventricle (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Bilateral frontal polymicrogyria morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Bilateral generalized polymicrogyria (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Bilateral parasagittal parieto-occipital polymicrogyria morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Bilateral frontoparietal polymicrogyria (disorder) morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Bilateral parasagittal parieto-occipital polymicrogyria morphologie associée (attribut) True Congenital smallness Inferred relationship Some 2
Microcephaly with simplified gyral pattern morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microphthalmos due to branchio-oculo-facial syndrome morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1
Microlissencephaly morphologie associée (attribut) True Congenital smallness Inferred relationship Some 1

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