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82354003: Multiple system malformation syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
136605019 Multiple system malformation syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

1220 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple system malformation syndrome Is a Multiple congenital malformations false Inferred relationship Existential restriction modifier
Multiple system malformation syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier
Multiple system malformation syndrome Is a Multisystem disorder false Inferred relationship Existential restriction modifier
Multiple system malformation syndrome Is a Congenital malformation syndrome true Inferred relationship Existential restriction modifier
Multiple system malformation syndrome Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier
Multiple system malformation syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple system malformation syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 1
Multiple system malformation syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Multiple system malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Congenital cataract, nephropathy, encephalopathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital intrauterine infection-like syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Gomez Lopez Hernandez syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Matthew Wood syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Galloway Mowat syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ackerman syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Double uterus, hemivagina, renal agenesis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Duane anomaly, myopathy, scoliosis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Dyschondrosteosis and nephritis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Meacham syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Familial caudal dysgenesis Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Nasopalpebral lipoma coloboma syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Native American myopathy Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Fallot complex with intellectual disability and growth delay syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Thymic, renal, anal, lung dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Sex reversion, kidney, adrenal and lung dysgenesis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Keratosis follicularis, dwarfism, cerebral atrophy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pericardial and diaphragmatic defect syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Neuroectodermal endocrine syndrome Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Neuroectodermal melanolysosomal disease Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Nephrosis, deafness, urinary tract, digital malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ligase 4 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Polysyndactyly and cardiac malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Craniolenticulosutural dysplasia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Auricular abnormality, cleft lip, ocular abnormality syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pierre Robin sequence, congenital heart defect, talipes syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
McCune Albright syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital sacral meningocele with conotruncal heart defect syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Scalp defect postaxial polydactyly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Coxoauricular syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Marfanoid syndrome De Silva type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Hydrocephalus, tall stature, joint laxity syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Branchial dysplasia, intellectual disability, inguinal hernia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Encephalopathy, intracerebral calcification, retinal degeneration syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Trigonocephaly, short stature, developmental delay syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Deafness, vitiligo, achalasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephalus, glomerulonephritis, marfanoid habitus syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Van den Bosch syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Aniridia, renal agenesis, psychomotor retardation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Megalocornea with intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephalus, lymphedema, chorioretinopathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
46,XX disorder of sex development with anorectal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Thoraco-abdominal enteric duplication Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Goldenhar syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Cleft palate, large ears, small head syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Conductive deafness, ptosis, skeletal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Short stature, wormian bones, dextrocardia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Agenesis of corpus callosum and abnormal genitalia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Oculoauricular syndrome Schorderet type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Porencephaly, cerebellar hypoplasia, internal malformations syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pachygyria, intellectual disability, epilepsy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pectus excavatum, macrocephaly, dysplastic nails syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Spina bifida and hypospadias syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Renal hepatic pancreatic dysplasia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Branchiootic syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Intellectual disability Birk-Barel type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, rhizomelic dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Intellectual disability, myopathy, short stature, endocrine defect syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Waardenburg syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Human immunodeficiency virus type I enhancer binding protein 2 related intellectual disability Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Alstrom syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephalic primordial dwarfism of Toriello type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Axial mesodermal dysplasia spectrum Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Deafness, nephritis, anorectal malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked cleft palate and ankyloglossia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
22q11.2 deletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Congenital deafness with labyrinthine aplasia, microtia and microdontia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephalus, brain defect, spasticity, hypernatremia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Imperforate oropharynx, costovertebral anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pseudoleprechaunism syndrome Patterson type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier

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