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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
786227010 Multiple malformation syndrome with early overgrowth (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
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

31 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple malformation syndrome with early overgrowth (disorder) morphologie associée (attribut) structure anormale sur le plan morphologique true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth (disorder) morphologie associée (attribut) Congenital malformation false Inferred relationship Some
Multiple malformation syndrome with early overgrowth (disorder) est un(e) (attribut) syndrome de malformations multisystémiques true Inferred relationship Some
Multiple malformation syndrome with early overgrowth (disorder) survenue (attribut) congénital true Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth (disorder) morphologie associée (attribut) Developmental abnormality false Inferred relationship Some 1
Multiple malformation syndrome with early overgrowth (disorder) survenue (attribut) congénital false Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
15q overgrowth syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Macrosomia, microphthalmia, cleft palate syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Proteus syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Tall stature, intellectual disability, renal anomalies syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Overgrowth syndrome with 2q37 translocation est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Kosaki overgrowth syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Fragile X syndrome est un(e) (attribut) False Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Weaver syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Marshall-Smith syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Sotos' syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
syndrome de Beckwith-Wiedemann est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Capillary malformation of lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs and overgrowth syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Klippel Trenaunay syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Overgrowth, macrocephaly, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Perlman syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Simpson-Golabi-Behmel syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Simpson Golabi Behmel syndrome type 2 (disorder) est un(e) (attribut) False Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Angio-osteohypertrophic syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Cerebral gigantism jaw cysts syndrome (disorder) est un(e) (attribut) False Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha related overgrowth syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Malan overgrowth syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
syndrome tumoral hamartomateux lié à PTEN est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some
Tall stature, scoliosis, macrodactyly of great toe syndrome est un(e) (attribut) True Multiple malformation syndrome with early overgrowth (disorder) Inferred relationship Some

Reference Sets

Canada English language reference set (foundation metadata concept)

Client's clinical problems, conditions, diagnoses, symptoms, findings, complaints reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

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