1187195007: Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Finding of general physiological development\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Central nervous system finding\Finding of brain\Disorder of brain\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Central nervous system finding\Finding of brain\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Central nervous system finding\Disorder of the central nervous system\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Finding of brain\Disorder of brain\...

\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Finding of head region\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalic cortical malformations, short stature due to rotatin deficiency

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Microcephalic cortical malformations, short stature due to rotatin deficiency
\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\Microcephalic cortical malformations, short stature due to rotatin deficiency
\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\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Disorder of brain\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency
\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\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of head\Disorder of brain\Disorder of cerebral cortex\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Disorder of head\Disorder of brain\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Developmental hereditary disorder\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of brain\Congenital anomaly of cerebrum\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Microcephalic cortical malformations, short stature due to rotatin deficiency
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Primordial dwarfism\Microcephalic cortical malformations, short stature due to rotatin deficiency

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Nov 2021. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

4670333015 Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

4670335010 Microcephalic cortical malformations, short stature due to rotatin deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

4670336011 Microcephalic cortical malformations, short stature due to RTTN (rotatin) deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

4670338012 Microcephalic cortical malformations, short stature due to RTTN deficiency en Synonym Active Only initial character case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Disorder of cerebral cortex	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Primordial dwarfism	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Congenital anomaly of cerebrum	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Multiple system malformation syndrome	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Existential restriction modifier
Microcephalic cortical malformations, short stature due to rotatin deficiency	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	3
Microcephalic cortical malformations, short stature due to rotatin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	3
Microcephalic cortical malformations, short stature due to rotatin deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephalic cortical malformations, short stature due to rotatin deficiency	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalic cortical malformations, short stature due to rotatin deficiency	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	1
Microcephalic cortical malformations, short stature due to rotatin deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephalic cortical malformations, short stature due to rotatin deficiency	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephalic cortical malformations, short stature due to rotatin deficiency	Finding site	Structure of cerebral cortex	true	Inferred relationship	Existential restriction modifier	2
Microcephalic cortical malformations, short stature due to rotatin deficiency	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Microcephalic cortical malformations, short stature due to rotatin deficiency	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Microcephalic cortical malformations, short stature due to rotatin deficiency	Interprets	Body height measure	true	Inferred relationship	Existential restriction modifier	4
Microcephalic cortical malformations, short stature due to rotatin deficiency	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	4
Microcephalic cortical malformations, short stature due to rotatin deficiency	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	5
Microcephalic cortical malformations, short stature due to rotatin deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Microcephalic cortical malformations, short stature due to rotatin deficiency	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	6
Microcephalic cortical malformations, short stature due to rotatin deficiency	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4670333015	Microcephalic cortical malformations, short stature due to rotatin deficiency (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
4670335010	Microcephalic cortical malformations, short stature due to rotatin deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
4670336011	Microcephalic cortical malformations, short stature due to RTTN (rotatin) deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module
4670338012	Microcephalic cortical malformations, short stature due to RTTN deficiency	en	Synonym	Active	Only initial character case insensitive	SNOMED CT core module