82354003: Multiple system malformation syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome

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

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple system malformation syndrome	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Multiple system malformation syndrome	Is a	Multisystem disorder	false	Inferred relationship	Some
Multiple system malformation syndrome	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Multiple system malformation syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	1
Multiple system malformation syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital cataract, nephropathy, encephalopathy syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital intrauterine infection-like syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Glaucoma, ectopia, microspherophakia, stiff joint, short stature syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Gomez Lopez Hernandez syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Matthew Wood syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Galloway Mowat syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Sclerosing dysplasia of bone, ichthyosis, premature ovarian failure syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ackerman syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Double uterus, hemivagina, renal agenesis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Duane anomaly, myopathy, scoliosis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Dyschondrosteosis and nephritis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Meacham syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Nasopalpebral lipoma coloboma syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Native American myopathy	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Fallot complex with intellectual disability and growth delay syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Thymic, renal, anal, lung dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pericardial and diaphragmatic defect syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Neuroectodermal endocrine syndrome	Is a	False	Multiple system malformation syndrome	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ligase 4 syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Perineal hemangioma, external genitalia malformation, lipomyelomeningocele, vesicorenal abnormality, imperforate anus syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Auricular abnormality, cleft lip, ocular abnormality syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
McCune Albright syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Scalp defect postaxial polydactyly syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Coxoauricular syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Marfanoid syndrome De Silva type (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Van den Bosch syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Thoraco-abdominal enteric duplication (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Goldenhar syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Short stature, wormian bones, dextrocardia syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Agenesis of corpus callosum and abnormal genitalia syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Oculoauricular syndrome Schorderet type	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Spina bifida and hypospadias syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Renal hepatic pancreatic dysplasia (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Branchiootic syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Intellectual disability Birk-Barel type	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Waardenburg syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
HIVEP2-related intellectual disability	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Alstrom syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Axial mesodermal dysplasia spectrum (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Lowe Kohn Cohen syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
X-linked cleft palate and ankyloglossia	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
22q11.2 deletion syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
136605019	Multiple system malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
823759016	Multiple system malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5856131000172111	syndrome d'anomalies congénitales multiples	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5087921000172118	malformatiesyndroom met betrokkenheid van meerdere systemen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
5087931000172115	polymalformatief syndroom van multipele systemen	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)