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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
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 Only initial character 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
786227010 Multiple malformation syndrome with early overgrowth (disorder) en Fully specified name Active 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
5989671000241119 syndrome polymalformatif avec croissance excessive précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
5989671000241119 syndrome polymalformatif avec croissance excessive précoce fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module

36 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 Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with early overgrowth Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with early overgrowth Associated morphology Congenital malformation false Inferred relationship Existential restriction modifier (core metadata concept)
Multiple malformation syndrome with early overgrowth Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with early overgrowth Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with early overgrowth Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Multiple malformation syndrome with early overgrowth Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group
Fragile X syndrome Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Weaver syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Marshall-Smith syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Sotos' syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Beckwith-Wiedemann syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
A rare, complex, vascular malformation syndrome characterized by capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of face and limbs, and partial or generalized overgrowth involving one or more body segments. Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Klippel Trenaunay syndrome Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth, macrocephaly, facial dysmorphism syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Perlman syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Simpson-Golabi-Behmel syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Simpson Golabi Behmel syndrome type 2 Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Angio-osteohypertrophic syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Macrocephaly, obesity, mental disability, ocular abnormality syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
syndrome de gigantisme cérébral-kystes maxillaires Is a False Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
PIK3CA related overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Malan overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
PTEN hamartoma tumour syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, intellectual disability, facial dysmorphism syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, scoliosis, macrodactyly of great toe syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
15q overgrowth syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Macrosomia, microphthalmia, cleft palate syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
A rare PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) related overgrowth syndrome disease with characteristics of segmental and progressive overgrowth, predominantly involving the adipose tissue, or a mixture of adipose and fibrous tissue, with variable involvement of subcutaneous and muscular tissue, as well as skeletal overgrowth. Overgrowth severity and range is highly variable although frequently it is asymmetric and disproportionate, it affects lower extremities more than the upper ones and progresses in a distal to proximal patten. Congenital overgrowth is typically associated. Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Proteus syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Tall stature, intellectual disability, renal anomalies syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth syndrome with 2q37 translocation Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Kosaki overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Megalencephaly, severe kyphoscoliosis, overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Diffuse capillary malformation with overgrowth Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
CHD8 overgrowth syndrome Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1.4 linker histone, cluster member mutation (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)
Developmental delay, overweight, facial dysmorphism, behavioral abnormalities syndrome (disorder) Is a True Multiple malformation syndrome with early overgrowth Inferred relationship Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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