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716189005: Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3305025017 Heide syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5401247018 A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401248011 A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305025017 Heide syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3305026016 This syndrome has characteristics of osteoporosis, macrocephalus, brachytelephalangy, and hyperextensibility of the joints. Congenital amaurosis and intellectual deficit have also been reported. This syndrome has been described in three members of one family. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401247018 A rare genetic disease characterized by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5401248011 A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
523471000274118 Heide-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601111000274119 Syndrom mit Osteoporose, Makrozephalie, Blindheit und Gelenkinstabilität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409651001000110 Osteoporose - Makrozephalie - Blindheit - Gelenkinstabilität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455461000241118 syndrome de Heide fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455471000241114 syndrome d'ostéoporose et macrocéphalie avec cécité et hyperlaxité articulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455461000241118 syndrome de Heide fr Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6455471000241114 syndrome d'ostéoporose et macrocéphalie avec cécité et hyperlaxité articulaire fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
523471000274118 Heide-Syndrom de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
601111000274119 Syndrom mit Osteoporose, Makrozephalie, Blindheit und Gelenkinstabilität de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3409651001000110 Osteoporose - Makrozephalie - Blindheit - Gelenkinstabilität 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
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a macrocéphalie false Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Skeletal dysplasia true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Congenital anomaly of visual system true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Hereditary disorder of the visual system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site Entire head false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways false Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 5
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site Entire head false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site The eye, ocular adnexa, afferent visual pathways, efferent visual pathways, and pupil innervation pathways true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Enlargement (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Associated morphology Dysplasia true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier (core metadata concept)
A rare genetic disease characterised by mild intellectual disability, osteoporosis, delayed bone age, macrocephaly with wormian bones and frontal bossing, anomalies of fingers, nails, and teeth, thoracic deformities, hyperextensibility of joints, as well as congenital amaurosis and paraplegia. There have been no further descriptions in the literature since 1981. Has interpretation Above reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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