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

SNOMED CT Concept\Clinical finding (finding)\...

\Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Finding of head region\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\NDE1-related microhydranencephaly

\Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\NDE1-related microhydranencephaly

\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\NDE1-related microhydranencephaly
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\NDE1-related microhydranencephaly
\Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\NDE1-related microhydranencephaly

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\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 foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of nervous system (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Hereditary disorder of nervous system (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of body system\Disease of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Disorder of head (disorder)\Disorder of brain\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Disorder of neuronal migration and differentiation\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Amyelencephalus (disorder)\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system (disorder)\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum (disorder)\Hydranencephaly (disorder)\NDE1-related microhydranencephaly
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Anencephalus (disorder)\Congenital absence of part of brain\Hemianencephaly\Hydranencephaly (disorder)\NDE1-related microhydranencephaly

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

Descriptions:

Id Description Lang Type Status Case? Module

5099325018 NDE1-related microhydranencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099326017 nudE neurodevelopment protein 1-related microhydranencephaly (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099327014 nudE neurodevelopment protein 1-related microhydranencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099329012 MHAC - microhydranencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5400285010 NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5400286011 NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterised by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5099325018 NDE1-related microhydranencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099326017 nudE neurodevelopment protein 1-related microhydranencephaly (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099327014 nudE neurodevelopment protein 1-related microhydranencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099329012 MHAC - microhydranencephaly en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5400285010 NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

5400286011 NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterised by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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 Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
NDE1-related microhydranencephaly	Is a	Intelligenzminderung	true	Inferred relationship	Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly	Is a	Congenital microcephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly	Is a	Hydranencephaly (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly	Is a	Hereditary disorder of nervous system (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)
NDE1-related microhydranencephaly	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
NDE1-related microhydranencephaly	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	3
NDE1-related microhydranencephaly	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
NDE1-related microhydranencephaly	Has interpretation	Impaired (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	4
NDE1-related microhydranencephaly	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
NDE1-related microhydranencephaly	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier (core metadata concept)	5
NDE1-related microhydranencephaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
NDE1-related microhydranencephaly	Finding site	Head structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
NDE1-related microhydranencephaly	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
NDE1-related microhydranencephaly	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
NDE1-related microhydranencephaly	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
NDE1-related microhydranencephaly	Finding site	Cerebral hemisphere structure (body structure)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
NDE1-related microhydranencephaly	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
NDE1-related microhydranencephaly	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	2
NDE1-related microhydranencephaly	Associated morphology	Abnormal smallness (morphologic abnormality)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
5099325018	NDE1-related microhydranencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099326017	nudE neurodevelopment protein 1-related microhydranencephaly (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099327014	nudE neurodevelopment protein 1-related microhydranencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099329012	MHAC - microhydranencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400285010	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400286011	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterised by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099325018	NDE1-related microhydranencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099326017	nudE neurodevelopment protein 1-related microhydranencephaly (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099327014	nudE neurodevelopment protein 1-related microhydranencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099329012	MHAC - microhydranencephaly	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400285010	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterized by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core
5400286011	NDE1-related microhydranencephaly is a rare, hereditary syndrome with a central nervous system malformation as major feature characterised by extreme microcephaly and growth restriction, severe motor delay and mental retardation, 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	Entire term case sensitive (core metadata concept)	SNOMED CT core