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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
5404141012 Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. 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
5404142017 Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterised by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. 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
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
5404141012 Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterized by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. 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
5404142017 Craniosynostosis, Herrmann-Opitz type is a rare bone development disorder characterised by intellectual disability, short stature, turribrachycephaly, facial dysmorphism (i.e. 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
3451061001000112 Kraniosynostose Typ Herrmann-Opitz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934641000172112 craniosynostose de Herrmann-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
934641000172112 craniosynostose de Herrmann-Opitz fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3451061001000112 Kraniosynostose Typ Herrmann-Opitz de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module


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 Existential restriction modifier (core metadata concept)
Craniosynostosis Herrmann Opitz type (disorder) Finding site Bone structure of cranium false Inferred relationship Existential restriction modifier (core metadata concept)
Craniosynostosis Herrmann Opitz type (disorder) Associated morphology Congenital premature fusion false Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis Herrmann Opitz type (disorder) Finding site Joint structure of suture of skull true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis Herrmann Opitz type (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis Herrmann Opitz type (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Craniosynostosis Herrmann Opitz type (disorder) Associated morphology Premature fusion (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 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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