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48637007: Multiple malformation syndrome with early overgrowth (disorder)

Status: current, Primitive. Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
786227010 Multiple malformation syndrome with early overgrowth (disorder) en Fully specified name Active Case insensitive SNOMED CT core
81045014 Multiple malformation syndrome with early overgrowth en Synonym Active Case insensitive SNOMED CT core
81046010 Multiple malformation syndrome with early overgrowth, NOS en Synonym Inactive Initial character case insensitive SNOMED CT core

32 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with early overgrowth Associated morphology Morphologically abnormal structure true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Pathological process Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Associated morphology Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with early overgrowth Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome with early overgrowth Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Associated morphology Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Occurrence Congenital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
15q overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Proteus syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Overgrowth syndrome with 2q37 translocation Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Kosaki overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Fragile X syndrome Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
Weaver syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Marshall-Smith syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Sotos' syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Beckwith-Wiedemann syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
CLAPO syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Klippel Trenaunay syndrome Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Perlman syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Simpson-Golabi-Behmel syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Simpson Golabi Behmel syndrome type 2 Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
Angio-osteohypertrophic syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
MOMO syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Cerebral gigantism jaw cysts syndrome Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
PIK3CA related overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Malan overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
PTEN hamartoma tumour syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Australian dialect reference set

Problem/Diagnosis reference set

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