82354003: Multiple system malformation syndrome (disorder)

SNOMED CT Concept\constatation clinique\Disease\...

\Congenital disease\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques

\trouble du développement\Congenital malformation\Congenital malformation syndrome (disorder)\syndrome de malformations multisystémiques

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
syndrome de malformations multisystémiques	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
syndrome de malformations multisystémiques	morphologie associée (attribut)	structure anormale sur le plan morphologique	true	Inferred relationship	Some	1
syndrome de malformations multisystémiques	est un(e) (attribut)	Multisystem disorder (disorder)	false	Inferred relationship	Some
syndrome de malformations multisystémiques	est un(e) (attribut)	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
syndrome de malformations multisystémiques	morphologie associée (attribut)	Congenital malformation	false	Inferred relationship	Some
syndrome de malformations multisystémiques	est un(e) (attribut)	Multiple congenital malformations	false	Inferred relationship	Some
syndrome de malformations multisystémiques	survenue (attribut)	congénital	true	Inferred relationship	Some	1
syndrome de malformations multisystémiques	morphologie associée (attribut)	Developmental abnormality	false	Inferred relationship	Some	1
syndrome de malformations multisystémiques	survenue (attribut)	congénital	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome de Meacham	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Familial caudal dysgenesis (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Pulmonary hypoplasia, agonadism, dextrocardia, diaphragmatic hernia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microcephaly, seizure, intellectual disability, heart disease syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Macrocephaly, alopecia, cutis laxa, scoliosis syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome de lipomes naso-palpébraux-colobome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Native American myopathy	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Spondylocostal dysostosis with anal atresia and genitourinary malformation syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome de tétralogie de Fallot-petite taille-déficience intellectuelle	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Thymic, renal, anal, lung dysplasia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Steroid dehydrogenase deficiency and dental anomaly syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Sex reversion, kidney, adrenal and lung dysgenesis syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Keratosis follicularis, dwarfism, cerebral atrophy syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Retinitis pigmentosa, hypopituitarism, nephronophthisis, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Pericardial and diaphragmatic defect syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Neuroectodermal endocrine syndrome (disorder)	est un(e) (attribut)	False	syndrome de malformations multisystémiques	Inferred relationship	Some
Neuroectodermal melanolysosomal disease (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Nephrosis, deafness, urinary tract, digital malformation syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microtia, eye coloboma, imperforation of nasolacrimal duct syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Ligase 4 syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Polysyndactyly and cardiac malformation syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Craniolenticulosutural dysplasia (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome d'hémangiome périnéal, malformations génitales externes, lipomyéloméningocèle, anomalies vésicorénales, imperforation anale, acrochordon	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Auricular abnormality, cleft lip, ocular abnormality syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Pierre Robin sequence, congenital heart defect, talipes syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
McCune Albright syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Congenital sacral meningocele with conotruncal heart defect syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome d'alopécie circonscrite-polydactylie	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Coxoauricular syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome marfanoïde type de Silva	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Hydrocephalus, tall stature, joint laxity syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Branchial dysplasia, intellectual disability, inguinal hernia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Encephalopathy, intracerebral calcification, retinal degeneration syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Trigonocephaly, short stature, developmental delay syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Deafness, vitiligo, achalasia syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microcephalus, glomerulonephritis, marfanoid habitus syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Ichthyosis, intellectual disability, dwarfism, renal impairment syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Van den Bosch syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Aniridia, renal agenesis, psychomotor retardation syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Megalocornea with intellectual disability syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microcephalus, lymphedema, chorioretinopathy syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
XY type gonadal dysgenesis with associated anomalies syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
46,XX disorder of sex development with skeletal anomalies syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
46,XX disorder of sex development with anorectal anomalies syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Thoraco-abdominal enteric duplication (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Coloboma, heart defects, choanal atresia, retardation of growth and development, genitourinary problems, ear abnormalities syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Goldenhar syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Cleft palate, large ears, small head syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Conductive deafness, ptosis, skeletal anomalies syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Short stature, wormian bones, dextrocardia syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Agenesis of corpus callosum and abnormal genitalia syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome oculo-auriculaire type Schorderet	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Porencephaly, cerebellar hypoplasia, internal malformations syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Pachygyria, intellectual disability, epilepsy syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome de pectus excavatum-macrocéphalie-dysplasie unguéale	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Postaxial polydactyly, anterior pituitary anomalies, facial dysmorphism syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Spina bifida and hypospadias syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Renal hepatic pancreatic dysplasia (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Branchiootic syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Intellectual disability Birk-Barel type	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Colobomatous microphthalmia, rhizomelic dysplasia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Intellectual disability, myopathy, short stature, endocrine defect syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Focal epilepsy, intellectual disability, cerebro-cerebellar malformation syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome de Waardenburg (trouble)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
HIVEP2-related intellectual disability	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Alstrom syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microcephalic primordial dwarfism of Toriello type (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Axial mesodermal dysplasia spectrum (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Lowe Kohn Cohen syndrome	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
X-linked cleft palate and ankyloglossia	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
22q11.2 deletion syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Congenital deafness with labyrinthine aplasia, microtia and microdontia	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microcephalus, brain defect, spasticity, hypernatremia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Microcephaly, thin corpus callosum, intellectual disability syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
syndrome d'extrasystoles, petite taille, hyperpigmentation, microcéphalie	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Imperforate oropharynx, costovertebral anomalies syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Pseudoleprechaunism syndrome Patterson type (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome (disorder)	est un(e) (attribut)	True	syndrome de malformations multisystémiques	Inferred relationship	Some

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Id	Description	Lang	Type	Status	Case?	Module
125281000077110	syndrome de malformations multisystémiques	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
136605019	Multiple system malformation syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
397731000077114	syndrome de malformations multisystémiques (trouble)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
823759016	Multiple system malformation syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core