82354003: malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening)

SNOMED CT Concept\Clinical finding (finding)\Disease\...

\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome

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

136605019 Multiple system malformation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
136606018 Multiple system malformation syndrome, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
823759016 Multiple system malformation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
8465311000146113 malformatiesyndroom met betrokkenheid van meerdere systemen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8465321000146115 malformatiesyndroom met betrokkenheid van meerdere systemen (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
8465331000146118 polymalformatief syndroom van multipele systemen nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Multiple system malformation syndrome	Is a	Multiple congenital malformations	false	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	Congenital	false	Inferred relationship	Some
Multiple system malformation syndrome	Is a	multisysteemaandoening	false	Inferred relationship	Some
Multiple system malformation syndrome	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Multiple system malformation syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Some
Multiple system malformation syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	1
Multiple system malformation syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Multiple system malformation syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cyclin dependent kinase 13-related congenital heart defects, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Luscan Lumish syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
SET domain containing 2, histone lysine methyltransferase-related microcephaly, severe intellectual disability, multiple congenital anomalies syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
MTHFS-related developmental delay, microcephaly, short stature, epilepsy syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Congenital pontocerebellar hypoplasia type 13	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Blepharophimosis, intellectual disability syndrome/genitopatellar overlap syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
KLHL7-related Bohring-Opitz-like and Crisponi/cold-induced sweating-like overlap syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Kelch like family member 7-related Crisponi/cold-induced sweating-like syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Cardiac urogenital syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
CIMDAG syndrome	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Chromodomain helicase DNA binding protein 4-related neurodevelopmental disorder (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some
Cleft palate, congenital heart defect, intellectual disability syndrome (disorder)	Is a	True	Multiple system malformation syndrome	Inferred relationship	Some

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This concept is not in any reference sets