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48637007: Multiple malformation syndrome with early overgrowth (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
81045014 Multiple malformation syndrome with early overgrowth en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
81046010 Multiple malformation syndrome with early overgrowth, NOS en Synonym (core metadata concept) Inactive Only initial character case insensitive (core metadata concept) SNOMED CT core
786227010 Multiple malformation syndrome with early overgrowth (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
2513461000052115 multipelt missbildningssyndrom med tidig överdriven tillväxt sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

31 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with early overgrowth Is a Multiple system malformation syndrome true Inferred relationship Some
Multiple malformation syndrome with early overgrowth Occurrence Congenital false Inferred relationship Some
Multiple malformation syndrome with early overgrowth Associated morphology medfödd missbildning false Inferred relationship Some
Multiple malformation syndrome with early overgrowth Occurrence Congenital true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Associated morphology utvecklingsabnormitet false Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Inbound Relationships Type Active Source Characteristic Refinability Group
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
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Klippel Trenaunay syndrome (disorder) Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Perlman syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Simpson-Golabi-Behmels syndrom, typ 2 Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
Angio-osteohypertrophic syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
syndrom med cerebral gigantism och käkcystor Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Some
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) 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 tumor syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) 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
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 tumor syndrome (disorder) 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 undermodeling, spondylar dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some
Kosaki overgrowth syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Some

Reference Sets

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US English

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