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253147000: Type 1 lissencephaly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2002. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
377034014 Type 1 lissencephaly en Synonym Active Entire term case insensitive SNOMED CT core module
643871013 Type 1 lissencephaly (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3701277019 Classic lissencephaly en Synonym Active Entire term case insensitive SNOMED CT core module


5 descendants. Search Descendants:

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Type 1 lissencephaly Is a Lissencephaly true Inferred relationship Existential restriction modifier
Type 1 lissencephaly Finding site Brain structure false Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Occurrence Congenital false Inferred relationship Existential restriction modifier
Type 1 lissencephaly Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Associated morphology Congenital anomaly false Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Finding site Brain structure true Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Occurrence Congenital false Inferred relationship Existential restriction modifier 2
Type 1 lissencephaly Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Type 1 lissencephaly Finding site Structure of nervous system false Inferred relationship Existential restriction modifier 2
Type 1 lissencephaly Occurrence Congenital false Inferred relationship Existential restriction modifier 3
Type 1 lissencephaly Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 3
Type 1 lissencephaly Finding site Structure of central nervous system false Inferred relationship Existential restriction modifier 3
Type 1 lissencephaly Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Type 1 lissencephaly Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group
Miller Dieker syndrome Is a True Type 1 lissencephaly Inferred relationship Existential restriction modifier
Lissencephaly type 1 due to doublecortin gene mutation Is a True Type 1 lissencephaly Inferred relationship Existential restriction modifier
Isolated lissencephaly type 1 without known genetic defect Is a True Type 1 lissencephaly Inferred relationship Existential restriction modifier
Lissencephaly syndrome Norman Roberts type Is a True Type 1 lissencephaly Inferred relationship Existential restriction modifier
Lissencephaly due to LIS1 mutation Is a True Type 1 lissencephaly Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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