Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, deafness syndrome (disorder)
| Code | 1332382002 |
|---|---|
| Semantic tag | disorder |
| Module | international |
| Definition | primitive |
| Effective time | 20240501 |
128236002Chronic disease of skin
disorder
128289001Chronic metabolic disorder
disorder
128283000Chronic nervous system disorder
disorder
715771008Colobomatous microphthalmia
disorder
95828007Congenital deafness
disorder
1145402008Congenital macrocephaly
disorder
700453005Congenital sensorineural hearing loss
disorder
103276001Decreased hearing
finding
232333009Hearing loss associated with syndrome
disorder
788953003Hereditary hearing loss
disorder
95499004Hypoplasia of the optic nerve
disorder
128190004Inherited metabolic disorder of nervous system
disorder
312942003Inherited optic neuropathy
disorder
50279003Metabolic bone disease
disorder
82354003Multiple system malformation syndrome
disorder
63844009Oculocutaneous albinism
disorder
1926006Osteopetrosis
disorder
1142007000Progressive macrocephaly
finding
None (leaf concept).