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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
Pseudoleprechaunism syndrome Patterson type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
RAB18, member RAS oncogene family deficiency Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
X-linked intellectual disability, craniofacioskeletal syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Hydrocephalus, blue sclera, nephropathy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
CK syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Craniosynostosis and dental anomalies syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL transcriptional regulator 3 deficiency syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Acrodysplasia scoliosis Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Genitopalatocardiac syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Porencephaly, microcephaly, bilateral congenital cataract syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ataxia, photosensitivity, short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ankyloblepharon filiforme adnatum with imperforate anus syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Spigelian hernia with cryptorchidism syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Nephrocystin 3-related Meckel-like syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Leukonychia totalis, trichilemmal cysts, ciliary dystrophy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Sebaceous nevus, central nervous system malformations, aplasia cutis congenita, limbal dermoid, pigmented nevus syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Didymosis aplasticosebacea Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Male emopamil-binding protein disorder with neurological defect Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Pontine tegmental cap dysplasia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Dobrow syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Renal caliceal diverticuli and deafness syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Richieri Costa-da Silva syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Subaortic stenosis and short stature syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Holzgreve syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Port-wine nevi, mega cisterna magna, hydrocephalus syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Muscle eye brain disease with bilateral multicystic leukodystrophy Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Prune belly syndrome with pulmonic stenosis, intellectual disability and deafness Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Cross syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Focal dermal hypoplasia Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Schwartz-Jampel syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Gillespie syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Megacystis, microcolon, hypoperistalsis syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Chromosome 11p11.2 deletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Septo-optic dysplasia sequence Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Prader-Willi syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
11p15 deletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
12q15 deletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Stickler syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
12q24.31-q24.32 deletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Microcephalus microcornea syndrome of Seemanova type Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 10q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
2q23.1 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
7p22.1 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
1q44 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
1q41q42 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal 22q11.2 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 22 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Monosomy 22 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
22q11.2 duplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal trisomy 22q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal 22q11.2 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 22 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Tetrasomy 21 Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 21 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Paternal 20q13.2q13.3 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
20q13.33 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 20q syndrome Is a False Multiple system malformation syndrome Inferred relationship Existential restriction modifier
20p13 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
20p12.3 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
20q11.2 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 20 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 20 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
20p partial trisomy syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
1p31p32 microdeletion syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal monosomy 1q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Mosaic trisomy 1 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Trisomy 1q syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
1q21.1 microduplication syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Distal trisomy 1p36 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 1 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 10 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 12 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 5 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 13 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 14 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 11 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 4 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 15 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 16 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 19 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 2 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 3 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 17 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 18 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome Y syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 6 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 7 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier
Ring chromosome 8 syndrome Is a True Multiple system malformation syndrome Inferred relationship Existential restriction modifier

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