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82354003: Multiple system malformation syndrome (disorder)

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

Descriptions:

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

1192 descendants. Search Descendants:

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
Pentalogy of Cantrell est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
RAB18, member RAS oncogene family deficiency (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
X-linked intellectual disability, craniofacioskeletal syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Microcephaly, polymicrogyria, corpus callosum agenesis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hydrocephalus, blue sclera, nephropathy syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
CK syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Craniosynostosis and dental anomalies syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Severe feeding difficulties, failure to thrive, microcephaly due to ASXL3 deficiency syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Partial corpus callosum agenesis, cerebellar vermis hypoplasia with posterior fossa cysts syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Spondylocostal dysostosis, hypospadias, intellectual disability syndrome (disorder) est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Muscular hypertrophy, hepatomegaly, polyhydramnios syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hypertelorism, preauricular sinus, punctual pits, deafness syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hypoplasia of pancreas, intestinal atresia, hypoplasia of gallbladder syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Acrodysplasia scoliosis (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Genitopalatocardiac syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Joint contracture, webbed neck, micrognathia, hypoplastic nipple syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Porencephaly, microcephaly, bilateral congenital cataract syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ataxia, photosensitivity, short stature syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ankyloblepharon filiforme adnatum with imperforate anus syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Spigelian hernia with cryptorchidism syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
NPHP3-related Meckel-like syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Sacral agenesis, abnormal ossification of vertebral bodies, persistent notochordal canal syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
FLOTCH syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
SCALP syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Didymosis aplasticosebacea (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Colobomatous microphthalmia, obesity, hypogenitalism, intellectual disability syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Male emopamil-binding protein disorder with neurological defect est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Pontine tegmental cap dysplasia est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Dobrow syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Renal caliceal diverticuli and deafness syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ophthalmoplegia, intellectual disability, lingua scrotalis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Richieri Costa-da Silva syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Subaortic stenosis and short stature syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Holzgreve syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de nævus en tache de vin, citerne cérébellomédullaire élargie, hydrocéphalie est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Muscle eye brain disease with bilateral multicystic leukodystrophy est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de prune belly avec sténose pulmonaire, arriération mentale et surdité est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Cross syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
hypoplasie dermique en aires est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Vertebral anomalies/dysgenesis, anal atresia, tracheo-esophageal fistula, esophageal atresia, renal anomalies, radial dysplasia association (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de Schwartz-Jampel (trouble) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Gillespie syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Megacystis, microcolon, hypoperistalsis syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Potocki-Shaffer syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Septo-optic dysplasia sequence est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Prader-Willi syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
11p15 deletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
12q15 deletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Stickler syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
12q24.31-q24.32 deletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
microcéphalie-microcornée type Seemanova est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 10q syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
2q23.1 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de microduplication 7p22.1 est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
1q44 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
1q41q42 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal 22q11.2 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 22 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Monosomy 22 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
22q11.2 duplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal trisomy 22q syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal 22q11.2 microduplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 22 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Tetrasomy 21 (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome du chromosome 21 en anneau (trouble) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Paternal 20q13.2q13.3 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
20q13.33 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 20q est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
20p13 microdeletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
20p12.3 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
20q11.2 microduplication syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 20 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 20 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
20p partial trisomy syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
1p31p32 microdeletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 1q syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 1 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Trisomy 1q syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
1q21.1 microduplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal trisomy 1p36 est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome du chromosome 1 en anneau (trouble) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 10 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 12 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 5 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 13 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 14 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 11 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 4 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome du chromosome 15 en anneau est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 16 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 19 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 2 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 3 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 17 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 18 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome Y syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 6 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring chromosome 7 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome du chromosome 8 en anneau est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de chromosome 9 en anneau est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some

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