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389236000: Neonatal osteosclerotic dysplasia (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2003. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
1463415012 Neonatal osteosclerotic dysplasia (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
1483275012 Neonatal osteosclerotic dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
1707431000005111 neonatal osteosklerotisk dysplasi da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)


4 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Neonatal osteosclerotic dysplasia (disorder) Is a Osteochondrodysplasia syndrome false Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Is a Neonatal disorder false Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Occurrence Congenital false Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Occurrence Neonatal false Inferred relationship Some 2
Neonatal osteosclerotic dysplasia (disorder) Associated morphology Kongenit malformation false Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Occurrence Congenital true Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Associated morphology dysgenese false Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Associated morphology Morphologically abnormal structure false Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Has interpretation Above reference range (qualifier value) true Inferred relationship Some 2
Neonatal osteosclerotic dysplasia (disorder) Associated morphology Dysplasia true Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Finding site Bone structure true Inferred relationship Some 1
Neonatal osteosclerotic dysplasia (disorder) Is a Dysplasia with increased bone density true Inferred relationship Some
Neonatal osteosclerotic dysplasia (disorder) Interprets Bone density scan true Inferred relationship Some 2
Neonatal osteosclerotic dysplasia (disorder) Is a Congenital anomaly of skeletal bone true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group
Blomstrand dysplasia (disorder) Is a True Neonatal osteosclerotic dysplasia (disorder) Inferred relationship Some
A rare disorder defined by generalised osteosclerosis with periosteal bone formation, characteristic facial dysmorphism, brain abnormalities including intracerebral calcifications, and neonatal lethal course. Mutations in the FAM20C gene have a causative role in lethal osteosclerotic bone dysplasia. The condition is transmitted in an autosomal recessive manner. Is a True Neonatal osteosclerotic dysplasia (disorder) Inferred relationship Some
Infantile cortical hyperostosis Is a True Neonatal osteosclerotic dysplasia (disorder) Inferred relationship Some
Desmosterolosis (disorder) Is a True Neonatal osteosclerotic dysplasia (disorder) Inferred relationship Some

This concept is not in any reference sets

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