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776087007: Autosomal recessive cerebral atrophy (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3736330010 Autosomal recessive cerebral atrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3736331014 Autosomal recessive cerebral atrophy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3732000013 A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex grey and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3777366010 A rare genetic neurodegenerative disorder with characteristics of ventriculomegaly and progressive symmetrical atrophy of the cerebral cortex gray and white matter (sparing the midbrain, brainstem, cerebellum and infratentorial segments). The disease manifests in early infancy with acquired microcephaly, irritability, regression of developmental milestones, feeding difficulties, akathisia, exaggerated startle response, spasticity (fisted hands, stiff arms, leg scissoring), abnormal muscle tone with hypotonic trunk and hypertonic extremities, visual impairment and seizures. 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
Autosomal recessive cerebral atrophy Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Autosomal recessive cerebral atrophy Associated morphology Atrophy true Inferred relationship Some 1
Autosomal recessive cerebral atrophy Is a Hereditary disorder of nervous system false Inferred relationship Some
Autosomal recessive cerebral atrophy Finding site Cerebrum true Inferred relationship Some 1
Autosomal recessive cerebral atrophy Is a Cerebral atrophy true Inferred relationship Some
Autosomal recessive cerebral atrophy Is a Hereditary degenerative disease of central nervous system true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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