FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.12  |  FHIR Version n/a  User: [n/a]

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
syndrome de chromosome 9 en anneau est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 14 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
14q partial distal trisomy syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
14q11.2 microduplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
14q12 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 14q syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
14q partial proximal trisomy syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 5 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Tetrasomy 5p syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
5q35 microduplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
trisomie distale 5q est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
5p partial monosomy syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
5q31.3 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
5q14.3 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
5q22.2 deletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
22q11 partial monosomy syndrome est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Chromosome Xp22.3 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Atypical Norrie disease due to monosomy Xp11.3 (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
16p12.2 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de microdélétion 16p13.11 est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
49,XXXYY syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Chromosome Xq27.3q28 duplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Choroideremia with deafness and obesity syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Microduplication Xp11.22p11.23 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 7q36 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de duplication Xq12-q13.3 est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Double Y syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
48,XYYY syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
49,XYYYY syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
3q29 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
3q26q27 microdeletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
3q13 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
6p22 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
syndrome de microdélétion 17q23.1q23.2 est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
17q12 microdeletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
12p12.1 microdeletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Non-distal monosomy 12q est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 15q est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
15q14 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
15q24 microdeletion est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 15 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
16p13.3 microduplication syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal trisomy 16q (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
2q31.1 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
2q33.1 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
2q32q33 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
2p21 microdeletion syndrome without cystinuria (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
2p21 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
tétrasomie 12p (trouble) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 8 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 12 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 16 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 17 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 2 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Mosaic trisomy 3 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Monosomy 13q14 syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Distal monosomy 13q syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Monosomy 13q34 syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
XK aprosencephaly syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Syndromic X-linked intellectual disability due to jumonji at-rich interactive domain 1c mutation (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
MARCH syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
RERE-related neurodevelopmental syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Telomere maintenance 2-related intellectual disability, neurodevelopmental disorder (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
TBCK-related intellectual disability syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Lethal hydranencephaly, diaphragmatic hernia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
X-linked cerebral, cerebellar, coloboma syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Christianson syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Congenital generalized hypercontractile muscle stiffness syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Congenital progressive bone marrow failure, B-cell immunodeficiency, skeletal dysplasia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Skeletal dysplasia, T-cell immunodeficiency, developmental delay syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
NEK9-related lethal skeletal dysplasia est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Stromme syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Severe hypotonia, psychomotor developmental delay, strabismus, cardiac septal defect syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Short stature, advanced bone age, early-onset osteoarthritis syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Severe oculo-renal-cerebellar syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Autosomal dominant deafness with onychodystrophy syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Severe myopia, generalized joint laxity, short stature syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Ring finger protein 13-related severe early-onset epileptic encephalopathy (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Pancreatic agenesis, holoprosencephaly syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Anterior maxillary protrusion, strabismus, intellectual disability syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
9q33.3q34.11 microdeletion syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
17q24.2 microdeletion syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
19p13.3 microduplication syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Timothy syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Microphthalmia, microtia, fetal akinesia syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital anomalies, enteropathy syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome with senile-like appearance est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Aglossia-adactyly syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Borjeson-Forssman-Lehmann syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Coffin-Siris syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Kundrat's syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Osteochondrodysplasia syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Arteriohepatic dysplasia est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Hanhart's syndrome est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome with limb defect as major feature est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome, small stature, without skeletal dysplasia est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Smith-Magenis syndrome (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some
Rieger syndrome (disorder) est un(e) (attribut) False syndrome de malformations multisystémiques Inferred relationship Some
Multiple malformation syndrome with early overgrowth (disorder) est un(e) (attribut) True syndrome de malformations multisystémiques Inferred relationship Some

Start Page 2 of 4 Next End


Reference Sets

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Back to Start