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48637007: Multiple malformation syndrome with early overgrowth (disorder)

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

\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth

\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with early overgrowth

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

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	Congenital malformation	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	Developmental anomaly	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 Behmel syndrome type 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
syndrome de gigantisme cérébral-kystes maxillaires	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
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome	Is a	True	Multiple malformation syndrome with early overgrowth	Inferred relationship	Some

Reference Sets

GB English

US English

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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
786227010	Multiple malformation syndrome with early overgrowth (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
11323951000172114	syndrome polymalformatif avec croissance excessive précoce	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4127991000172111	polymalformatief syndroom met vroege overgroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
4128001000172116	syndroom van multipele malformaties met vroege overgroei	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)