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763684005: craniosynostose Herrmann-Opitz-type (aandoening)


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
12686931000146117 craniosynostose Herrmann-Opitz-type nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
12690051000146110 craniosynostose Herrmann-Opitz-type (aandoening) nl Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)
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


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 congenitale premature fusie false 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
Craniosynostosis Herrmann Opitz type (disorder) Associated morphology Premature fusion 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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