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41086002: Congenital smallness (morphologic abnormality)


    Status: retired, 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
    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
    68540011 Congenital smallness en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
    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 Only initial character 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 Existential restriction modifier (core metadata concept)
    Congenital smallness Is a Growth alteration false Inferred relationship Existential restriction modifier (core metadata concept)

    Inbound Relationships Type Active Source Characteristic Refinability Group
    Congenitally small punctum lacrimale (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microspherophakia (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Fetal microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital bilateral perisylvian syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Thrombocytopathy, asplenia and miosis (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Neu-Laxova syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    microcéphalie autosomique dominante bénigne Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    microcéphalie primitive Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    dysplasie ostéodysplasique microcéphalique type Saul-Wilson Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    microcéphalie Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Secondary microcephaly Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephaly-capillary malformation syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Amish lethal microcephaly (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    The MMEP syndrome is a congenital syndromic form of split-hand/foot malformation. It is characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs and prognathism. Intellectual deficit has been reported. MMEP syndrome is considered to be a very rare condition, although the exact prevalence remains unknown. The etiology is not completely understood. Disruption of the sorting nexin 3 gene (SNX3; 6q21) has been shown to play a causative role in MMEP, although this was not confirmed in recent studies. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare syndrome described and characterized by prenatal onset of growth deficiency, microcephaly, hypoplastic genitalia, and birth onset of convulsions. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Colobomatous microphthalmia is a developmental disorder of the eye characterized by unilateral or bilateral microphthalmia associated with ocular coloboma. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalic primordial dwarfism Toriello type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    SOX2 anophthalmia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus microcornea syndrome of Seemanova type (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Micromelic spondyloepimetaphyseal dysplasia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Oculocerebral dysplasia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare ophthalmic disease and a severe form of microphthalmia (small eye phenotype) characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephaly with deafness and intellectual disability syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcornea with glaucoma and absent frontal sinus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microphthalmia-ankyloblepharon-intellectual disability syndrome is characterised by microphthalmia, ankyloblepharon and intellectual deficit. It has been described in seven male patients from two generations of a Northern Ireland family. The causative gene is localised to the Xq27-q28 region. The syndrome is transmitted as an X-linked recessive trait. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Unilateral polymicrogyria Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Micromelia (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Achalasia microcephaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Syndromic microphthalmia due to orthodenticle homeobox 2 mutation (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Radioulnar synostosis with microcephaly and scoliosis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcephaly-cardiomyopathy syndrome is characterized by severe intellectual deficit, microcephaly and dilated cardiomyopathy. Hand and foot anomalies have also been reported. The syndrome has been described in three individuals. Transmission is autosomal recessive. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcephalus with brachydactyly and kyphoscoliosis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 8
    Microcephalus cleft palate syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcephaly - albinism - digital anomalies syndrome is a very rare syndrome associating microcephaly, micrognathia, oculocutaneous albinism, hypoplasia of the distal phalanx of fingers and agenesia of the distal end of the right big toe. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 12
    Microcornea with corectopia and macular hypoplasia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterised by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac and skeletal (hypoplastic thumbs and first metacarpals) abnormalities. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 7
    Microphthalmia with brain atrophy syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Aphalangy and syndactyly with microcephaly syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    A multiple congenital anomaly disorder characterised by anonychia congenita totalis and microcephaly, and normal intelligence along with some minor anomalies including single transverse palmar creases, fifth-finger clinodactyly and widely spaced teeth. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    A malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Filippi syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Hall Riggs syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterized by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25). Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare multiple congenital anomalies syndrome characterised by congenital microgastria and a uni- or bilateral limb reduction defect, that can include absent or hypoplastic thumbs, radius, ulna and/or amelia. Association with other variable abnormalities, including intestinal malrotation, asplenia, dysplastic kidneys, hypoplastic lungs, dysplastic corpus collosum, and abnormal genitalia, has been reported. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microtia Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 7
    Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Bilateral microtia with deafness and cleft palate syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare X-linked, syndromic eye disorder characterised by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Lowry MacLean syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Unilateral polymicrogyria Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Epiphyseal dysplasia, microcephalus, nystagmus syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Isotretinoin embryopathy-like syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Hypertelorism-microtia-facial clefting syndrome, or HMC syndrome, is a very rare syndrome characterized by the combination of hypertelorism, cleft lip and palate and microtia. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oculocerebrofacial syndrome Kaufman type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Oculopalatocerebral syndrome is characterized by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Cataract and microcornea syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    A rare genetic multiple congenital anomalies/dysmorphic syndrome characterised by psychomotor and growth delay, severe intellectual disability, microcephaly, and hypoplastic corpus callosum. Additional reported manifestations include increased muscle tonus, seizures, cardiac anomalies, recurrent bronchopneumonia, camptodactyly, preauricular skin tag, and dysmorphic facial features (such as broad forehead, hypertelorism, flat nasal bridge, anteverted nostrils, and prominent ears), among others. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Juvenile cataract, microcornea, renal glucosuria syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis, microcephaly, microtia and/or hearing loss, hypotonia and skeletal anomalies (e.g. clinodactyly, camptodactyly, scoliosis). Additional common features are short stature, intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures, highly arched palate and micrognathia. Rarely, seizures and asymmetrically small feet have been reported. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 9
    Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    Thickened earlobe with conductive deafness syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Goldberg Shprintzen megacolon syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 7
    Severe X-linked intellectual disability Gustavson type (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microcephaly, seizure, intellectual disability, heart disease syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Microlissencephaly-micromelia syndrome is a syndrome of abnormal cortical development, characterized by severe prenatal polyhydramnios, postnatal microcephaly, lissencephaly, upper limb micromelia, dysmorphic facies (coarse face, hypertrichosis, and short nose with long philtrum), intractable seizures, and early death. Hypoparathyroidism was noted in one case. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 7
    Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterised by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.). Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Renier Gabreels Jasper syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Renier Gabreels Jasper syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Retinal degeneration, nanophthalmos, glaucoma syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalic primordial dwarfism Toriello type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Microcephalic primordial dwarfism due to ZNF335 deficiency Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 6
    Microspherophakia with metaphyseal dysplasia syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3
    Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 1
    Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    This syndrome is characterised by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism. Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Microcephalic osteodysplastic primordial dwarfism types I and III Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 2
    Short rib polydactyly syndrome Saldino Noonan type Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Coxoauricular syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 4
    Epilepsy, microcephaly, skeletal dysplasia syndrome Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 5
    Alaninuria, microcephaly, dwarfism, enamel hypoplasia, diabetes mellitus syndrome (disorder) Associated morphology False Congenital smallness Inferred relationship Existential restriction modifier (core metadata concept) 3

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