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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. Date: 31-Jul 2016. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3305025017 Heide syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
3305027013 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3305028015 Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3305029011 Osteoporosis and macrocephaly with blindness and joint hyperlaxity syndrome en Synonym Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Macrocephaly false Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Congenital skeletal dysplasia true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Congenital anomaly of visual system true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Entire head false Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 4
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Structure of visual system false Inferred relationship Existential restriction modifier 4
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 5
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 5
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Entire head false Inferred relationship Existential restriction modifier 1
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Congenital enlargement false Inferred relationship Existential restriction modifier 1
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Structure of visual system true Inferred relationship Existential restriction modifier 2
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 2
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Congenital anomaly of skeletal bone true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Enlargement true Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier 4
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Finding site Head structure true Inferred relationship Existential restriction modifier 3
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Is a Congenital macrocephaly true Inferred relationship Existential restriction modifier
Osteoporosis and macrocephaly with blindness and joint hypermobility syndrome Has interpretation Above reference range true Inferred relationship Existential restriction modifier 4

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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