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724226009: Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3437863010 Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437864016 Infantile osteopetrosis with neuroaxonal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437865015 Infantile osteopetrosis with neuroaxonal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5403281017 This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403282012 This syndrome is characterised by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3437863010 Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437864016 Infantile osteopetrosis with neuroaxonal dysplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437865015 Infantile osteopetrosis with neuroaxonal dysplasia en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3437866019 This syndrome has characteristics of osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. It has been described in a brother and a sister born to nonconsanguineous Caucasian parents. The children died at the ages of 1 and 9 months, respectively. Several additional cases combining axonal dystrophy and osteopetrosis have been described. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403281017 This syndrome is characterized by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5403282012 This syndrome is characterised by osteopetrosis, agenesis of the corpus callosum, cerebral atrophy and a small hippocampus. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3433861001000118 Osteopetrose mit neuroaxonaler Dysplasie, infantile Form de Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6266121000241118 syndrome d'ostéopétrose infantile avec dysplasie neuroaxonale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
6266121000241118 syndrome d'ostéopétrose infantile avec dysplasie neuroaxonale fr Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Switzerland NRC maintained Module
3433861001000118 Osteopetrose mit neuroaxonaler Dysplasie, infantile Form 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
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Osteopetrosis (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Agenesis of corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Connective tissue hereditary disorder false Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Hereditary disorder of musculoskeletal system false Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Associated morphology anomalie du développement false Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Finding site Bone structure false Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Associated morphology Congenital absence (morphologic abnormality) false Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Occurrence Congenital false Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Finding site Entire corpus callosum false Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Finding site Entire corpus callosum true Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Finding site Bone structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Associated morphology Agenesis (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Interprets Osteoclast turnover rate true Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 3
Infantile osteopetrosis with neuroaxonal dysplasia syndrome (disorder) Clinical course Progressive 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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