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1363584003: Dysplastic cortical hyperostosis Al-Gazali type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 01-Apr 2025. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5449799016 Dysplastic cortical hyperostosis Al-Gazali type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5449800017 Dysplastic cortical hyperostosis Al-Gazali type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
5449808012 Dysplastic cortical hyperostosis Al-Gazali type is a form of rare dysplastic cortical hyperostosis characterized by narrow chest, short limbs with generalized, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5449809016 Dysplastic cortical hyperostosis Al-Gazali type is a form of rare dysplastic cortical hyperostosis characterised by narrow chest, short limbs with generalised, symmetrical cortical thickening throughout the skeleton, particularly in the long bones and ribs. Additional features may include sclerotic metacarpals and metatarsals with proximal tapering and mild sclerosis of the pelvis. No cortical thickening reported in skull or mandible. Size of the hands and feet are normal. Microcephaly, abnormal lung segmentation, hepatosplenomegaly, poorly developed cerebral sulci and complete renal duplication has been observed. It is a lethal condition associated to severe fetal hydrops and polyhydramnios. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Dysplastic cortical hyperostosis Al-Gazali type Is a Dysplastic cortical hyperostosis (disorder) true Inferred relationship Some
Dysplastic cortical hyperostosis Al-Gazali type Interprets Bone density scan true Inferred relationship Some 2
Dysplastic cortical hyperostosis Al-Gazali type Has interpretation Above reference range true Inferred relationship Some 2
Dysplastic cortical hyperostosis Al-Gazali type Occurrence Congenital true Inferred relationship Some 1
Dysplastic cortical hyperostosis Al-Gazali type Finding site Bone structure true Inferred relationship Some 1
Dysplastic cortical hyperostosis Al-Gazali type Associated morphology Dysplasia true Inferred relationship Some 1
Dysplastic cortical hyperostosis Al-Gazali type Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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