1237462006: nudE neurodevelopment protein 1-related microhydranencephaly (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\nudE neurodevelopment protein 1-related microhydranencephaly

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Finding of head and neck region\Head finding\...

\Finding of head circumference\Microcephaly\Congenital microcephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Finding of brain\Disorder of brain\Congenital anomaly of brain\...

\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Finding of head region\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\nudE neurodevelopment protein 1-related microhydranencephaly
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\nudE neurodevelopment protein 1-related microhydranencephaly
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\nudE neurodevelopment protein 1-related microhydranencephaly

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\nudE neurodevelopment protein 1-related microhydranencephaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Developmental hereditary disorder\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\nudE neurodevelopment protein 1-related microhydranencephaly

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5099325018 NDE1-related microhydranencephaly en Synonym Active Entire term case sensitive SNOMED CT core module
5099326017 nudE neurodevelopment protein 1-related microhydranencephaly (disorder) en Fully specified name Active Entire term case sensitive SNOMED CT core module
5099327014 nudE neurodevelopment protein 1-related microhydranencephaly en Synonym Active Entire term case sensitive SNOMED CT core module
5099329012 MHAC - microhydranencephaly en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
nudE neurodevelopment protein 1-related microhydranencephaly	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly	Is a	Hydranencephaly	true	Inferred relationship	Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
nudE neurodevelopment protein 1-related microhydranencephaly	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	3
nudE neurodevelopment protein 1-related microhydranencephaly	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	3
nudE neurodevelopment protein 1-related microhydranencephaly	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	4
nudE neurodevelopment protein 1-related microhydranencephaly	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	4
nudE neurodevelopment protein 1-related microhydranencephaly	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	5
nudE neurodevelopment protein 1-related microhydranencephaly	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	5
nudE neurodevelopment protein 1-related microhydranencephaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
nudE neurodevelopment protein 1-related microhydranencephaly	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
nudE neurodevelopment protein 1-related microhydranencephaly	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
nudE neurodevelopment protein 1-related microhydranencephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
nudE neurodevelopment protein 1-related microhydranencephaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
nudE neurodevelopment protein 1-related microhydranencephaly	Finding site	Cerebral hemisphere structure	true	Inferred relationship	Existential restriction modifier	2
nudE neurodevelopment protein 1-related microhydranencephaly	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	2
nudE neurodevelopment protein 1-related microhydranencephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5099325018	NDE1-related microhydranencephaly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5099326017	nudE neurodevelopment protein 1-related microhydranencephaly (disorder)	en	Fully specified name	Active	Entire term case sensitive	SNOMED CT core module
5099327014	nudE neurodevelopment protein 1-related microhydranencephaly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5099329012	MHAC - microhydranencephaly	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module