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

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\NDE1-related microhydranencephaly

\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-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\NDE1-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\NDE1-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\NDE1-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\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\NDE1-related microhydranencephaly

\Finding of brain\Encephalopathy\Congenital anomaly of brain\...

\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly

\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly

\Finding of head region\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\NDE1-related microhydranencephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\NDE1-related microhydranencephaly
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\NDE1-related microhydranencephaly
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\NDE1-related microhydranencephaly

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\NDE1-related microhydranencephaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\NDE1-related microhydranencephaly
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\NDE1-related microhydranencephaly
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\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\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\NDE1-related microhydranencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Developmental hereditary disorder\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Disorder of neuronal migration and differentiation\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Amyelencephalus\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Hydranencephaly\NDE1-related microhydranencephaly
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly\NDE1-related microhydranencephaly

Status: current, Primitive. Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5099325018 NDE1-related microhydranencephaly en Synonym Active Case sensitive SNOMED CT core

5099326017 nudE neurodevelopment protein 1-related microhydranencephaly (disorder) en Fully specified name Active Case sensitive SNOMED CT core

5099327014 nudE neurodevelopment protein 1-related microhydranencephaly en Synonym Active Case sensitive SNOMED CT core

5099329012 MHAC - microhydranencephaly en Synonym Active Case sensitive SNOMED CT core

5099328016 A rare hereditary syndrome with characteristics of extreme microcephaly and growth restriction, severe motor delay, intellectual disability and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum and brainstem. Associated features are thin bones and scalp rugae. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NDE1-related microhydranencephaly	Is a	Intellectual disability	true	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	Congenital microcephaly	true	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	Hydranencephaly	true	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
NDE1-related microhydranencephaly	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
NDE1-related microhydranencephaly	Interprets	Intellectual ability	true	Inferred relationship	Some	3
NDE1-related microhydranencephaly	Has interpretation	Impaired	true	Inferred relationship	Some	3
NDE1-related microhydranencephaly	Interprets	Adaptation behaviour	true	Inferred relationship	Some	4
NDE1-related microhydranencephaly	Has interpretation	Impaired	true	Inferred relationship	Some	4
NDE1-related microhydranencephaly	Interprets	Birth head circumference	true	Inferred relationship	Some	5
NDE1-related microhydranencephaly	Has interpretation	Below reference range	true	Inferred relationship	Some	5
NDE1-related microhydranencephaly	Occurrence	Congenital	true	Inferred relationship	Some	1
NDE1-related microhydranencephaly	Finding site	Structure of head	true	Inferred relationship	Some	1
NDE1-related microhydranencephaly	Associated morphology	Congenital smallness	true	Inferred relationship	Some	1
NDE1-related microhydranencephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
NDE1-related microhydranencephaly	Occurrence	Congenital	true	Inferred relationship	Some	2
NDE1-related microhydranencephaly	Finding site	Cerebral hemisphere structure	true	Inferred relationship	Some	2
NDE1-related microhydranencephaly	Associated morphology	Absence	true	Inferred relationship	Some	2
NDE1-related microhydranencephaly	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

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Id	Description	Lang	Type	Status	Case?	Module
5099325018	NDE1-related microhydranencephaly	en	Synonym	Active	Case sensitive	SNOMED CT core
5099326017	nudE neurodevelopment protein 1-related microhydranencephaly (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
5099327014	nudE neurodevelopment protein 1-related microhydranencephaly	en	Synonym	Active	Case sensitive	SNOMED CT core
5099329012	MHAC - microhydranencephaly	en	Synonym	Active	Case sensitive	SNOMED CT core
5099328016	A rare hereditary syndrome with characteristics of extreme microcephaly and growth restriction, severe motor delay, intellectual disability and typical radiological findings of gross dilation of the ventricles resulting from the absence (or severe delay in the development) of cerebral hemispheres, hypoplasia of the corpus callosum, cerebellum and brainstem. Associated features are thin bones and scalp rugae.	en	Definition	Active	Case sensitive	SNOMED CT core