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763684005: Craniosynostosis Herrmann Opitz type (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2018. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3643279010 Craniosynostosis Herrmann Opitz type (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3643280013 Craniosynostosis Herrmann Opitz type en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3643277012 A rare bone development disorder with characteristics of intellectual disability, short stature, turribrachycephaly, facial dysmorphism (severe hypertelorism, hypoplasia of supraorbital ridges, abnormal ears, and micrognathia), bony defects of the occiput, and digital anomalies (including syndactyly, oligodactyly, and/or brachydactyly). Urethral atresia has also been reported. There have been no further descriptions in the literature since 1987. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
4146801000052117 kraniosynostos, typ Herrmann Opitz sv Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Craniosynostosis Herrmann Opitz type (disorder) Is a Craniosynostosis syndrome true Inferred relationship Some
Craniosynostosis Herrmann Opitz type (disorder) Finding site Bone structure of cranium false Inferred relationship Some
Craniosynostosis Herrmann Opitz type (disorder) Associated morphology Congenital premature fusion true Inferred relationship Some 1
Craniosynostosis Herrmann Opitz type (disorder) Finding site Joint structure of suture of skull true Inferred relationship Some 1
Craniosynostosis Herrmann Opitz type (disorder) Occurrence Congenital true Inferred relationship Some 1
Craniosynostosis Herrmann Opitz type (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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