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82354003: Multiple system malformation syndrome (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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

1219 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple system malformation syndrome Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple system malformation syndrome Is a Multisystem disorder false Inferred relationship Some
Multiple system malformation syndrome Is a Congenital malformation syndrome true Inferred relationship Some
Multiple system malformation syndrome Associated morphology Congenital malformation false Inferred relationship Some
Multiple system malformation syndrome Is a Multiple congenital malformations false Inferred relationship Some
Multiple system malformation syndrome Occurrence Congenital true Inferred relationship Some 1
Multiple system malformation syndrome Associated morphology Developmental abnormality false Inferred relationship Some 1
Multiple system malformation syndrome Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Ackerman syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Double uterus, hemivagina, renal agenesis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Duane anomaly, myopathy, scoliosis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Dyschondrosteosis and nephritis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Male hypergonadotropic hypogonadism, intellectual disability, skeletal anomaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Meacham syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Familial caudal dysgenesis Is a True Multiple system malformation syndrome Inferred relationship Some
PAGOD syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Microcephaly, seizure, intellectual disability, heart disease syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Macrostomia, preauricular tag, external ophthalmoplegia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
RIN2 syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Nasopalpebral lipoma coloboma syndrome 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 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Steroid dehydrogenase deficiency and dental anomaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Spinal muscular atrophy, Dandy-Walker malformation, cataract syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
SERKAL syndrome 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
RHYNS syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Posterior fusion of lumbosacral vertebrae and blepharoptosis syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Pericardial and diaphragmatic defect syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Nephrosis, deafness, urinary tract, digital malformation syndrome 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
LIG4 syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Polysyndactyly and cardiac malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Craniolenticulosutural dysplasia Is a True Multiple system malformation syndrome Inferred relationship Some
PELVIS syndrome 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
TARP syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
McCune Albright syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Kousseff syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Scalp defect postaxial polydactyly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Coxoauricular syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Marfanoid syndrome De Silva type Is a True Multiple system malformation syndrome Inferred relationship Some
Hydrocephaly, tall stature, joint laxity syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Lambert syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Bonnemann Meinecke Reich syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Trigonocephaly, short stature, developmental delay syndrome 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 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Van den Bosch syndrome 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, lymphoedema, chorioretinopathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
XY type gonadal dysgenesis with associated anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
46,XX disorder of sex development with skeletal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
46,XX disorder of sex development with anorectal anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Thoraco-abdominal enteric duplication Is a True Multiple system malformation syndrome Inferred relationship Some
Ectodermal dysplasia, intellectual disability, central nervous system malformation syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Coloboma, heart malformation, choanal atresia, retardation of growth and development, genital abnormalities, and ear malformations association 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
Corpus callosum agenesis, 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Pachygyria, intellectual disability, epilepsy syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Pectus excavatum, macrocephaly, dysplastic nails syndrome 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Renal hepatic pancreatic dysplasia Is a True Multiple system malformation syndrome Inferred relationship Some
Cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, skeletal dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Branchiootic syndrome 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 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 Is a True Multiple system malformation syndrome Inferred relationship Some
Waardenburg's syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Human immunodeficiency virus type I enhancer binding protein 2 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 Toriello type Is a True Multiple system malformation syndrome Inferred relationship Some
Axial mesodermal dysplasia spectrum 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 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, hypernatraemia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Microcephaly, thin corpus callosum, intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Imperforate oropharynx, costovertebral anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Poikiloderma, alopecia, retrognathism, cleft palate syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Pseudoleprechaunism syndrome Patterson type Is a True Multiple system malformation syndrome Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Some

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