osteogenesis imperfecta, recessive perinatal lethal, with microcephaly and cataracts

Preferred Label : osteogenesis imperfecta, recessive perinatal lethal, with microcephaly and cataracts;

Origin ID

D6-90528;

UMLS CUI

C0268361;

Currated CISMeF NLP mapping
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) [SNOMED CT concept]
ICD-10 exact mapping(s)
- Osteogenesis imperfecta [ICD-10 Sub-category (who)]
Metaterm(s)
- metabolism [CISMeF Metaterm]
SNOMED CT concept
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts (disorder) [SNOMED CT concept]