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773643006: Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder)


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

Descriptions:

Id Description Lang Type Status Case? Module
3725344017 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 en Synonym Active Entire term case insensitive SNOMED CT core module
3725345016 MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 2 en Synonym Active Entire term case sensitive SNOMED CT core module
3725346015 Multiple congenital anomalies, hypotonia, seizures syndrome type 2 (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Finding site Face structure true Inferred relationship Existential restriction modifier 1
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Finding site Structure of cerebrum true Inferred relationship Existential restriction modifier 2
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a Epileptic encephalopathy true Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a Hereditary disorder of nervous system false Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a Carbohydrate-deficient glycoprotein syndrome true Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a X-linked hereditary disease false Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a X-linked recessive hereditary disease true Inferred relationship Existential restriction modifier
Multiple congenital anomalies, hypotonia, seizures syndrome type 2 Is a Inherited metabolic disorder of nervous system true Inferred relationship Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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