Multiple malformation syndrome with early overgrowth (disorder)
| Code | 48637007 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20020131 |
82354003Multiple system malformation syndrome
disorder
77147700315q overgrowth syndrome
disorder
723991007Angio-osteohypertrophic syndrome
disorder
1304277005Autosomal dominant intellectual disability, craniofacial dysmorphism, macrocephaly, hypotonia syndrome due to H1-4 mutation
disorder
81780002Beckwith-Wiedemann syndrome
disorder
1304276001CHD8 overgrowth syndrome
disorder
717765001CLAPO syndrome
disorder
768843007DNMT3A-related overgrowth syndrome
disorder
1340176000Developmental delay, overweight, facial dysmorphism, behavioural abnormalities syndrome
disorder
1293116008Diffuse capillary malformation with overgrowth
disorder
782722002Global developmental delay, lung cysts, overgrowth, Wilms tumour syndrome
disorder
1172898008Kosaki overgrowth syndrome
disorder
724137002MOMO syndrome
disorder
773282001Macrosomia, microphthalmia, cleft palate syndrome
disorder
763795006Malan overgrowth syndrome
disorder
73284007Marshall-Smith syndrome
disorder
1260143005Megalencephaly, severe kyphoscoliosis, overgrowth syndrome
disorder
1169362009Overgrowth syndrome with 2q37 translocation
disorder
722122000Overgrowth, macrocephaly, facial dysmorphism syndrome
disorder
1169363004Overgrowth, metaphyseal undermodelling, spondylar dysplasia syndrome
disorder
737037004PIK3CA related overgrowth syndrome
disorder
722859001PTEN hamartoma tumour syndrome
disorder
722231005Perlman syndrome
disorder
23150001Proteus syndrome
disorder
787094005Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
disorder
439143004Simpson-Golabi-Behmel syndrome
disorder
75968004Sotos' syndrome
disorder
1169359006Tall stature, intellectual disability, renal anomalies syndrome
disorder
770788000Tall stature, scoliosis, macrodactyly of great toe syndrome
disorder
63119004Weaver syndrome
disorder