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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
136605019 Multiple system malformation syndrome en Synonym (core metadata concept) Active Entire term 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

1258 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 Some
Multiple system malformation syndrome Occurrence Congenital false Inferred relationship Some
Multiple system malformation syndrome Is a Multisystem disorder 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 Developmental anomaly 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
Posterior fossa brain malformation, hemangioma, arterial anomaly, cardiac defect and aortic coarctation, and eye abnormality syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Jansen-de Vries syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Intellectual disability, cupped ears syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Intellectual disability, early-onset cataract, microcephaly syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Loeys-Dietz syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some
Oculogastrointestinal neurodevelopmental syndrome Is a True Multiple system malformation syndrome Inferred relationship Some
Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual disability, Leber congenital amaurosis syndrome (disorder) Is a True Multiple system malformation syndrome Inferred relationship Some

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