773610007: Chudley McCullough syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Central nervous system finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Central nervous system finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Central nervous system finding\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Central nervous system finding\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome

\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Finding of head and neck region\Head finding\Finding of brain\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Chudley McCullough syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Finding of head and neck region\Head finding\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Chudley McCullough syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chudley McCullough syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chudley McCullough syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Chudley McCullough syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Chudley McCullough syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Chudley McCullough syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chudley McCullough syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Chudley McCullough syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Chudley McCullough syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Sensorineural hearing loss\Chudley McCullough syndrome

\Functional finding\Hearing finding\Hearing disorder\Hearing loss\...

\Hearing loss associated with syndrome\Chudley McCullough syndrome

\Sensorineural hearing loss\Chudley McCullough syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Chudley McCullough syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Chudley McCullough syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Chudley McCullough syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Chudley McCullough syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Chudley McCullough syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Chudley McCullough syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Chudley McCullough syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Chudley McCullough syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Chudley McCullough syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chudley McCullough syndrome
\Disease\Disorder of body system\Neurological disorder\Hereditary disorder of nervous system\Chudley McCullough syndrome
\Disease\Disorder of body system\Neurological disorder\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Disorder of body system\Neurological disorder\Disorder of the central nervous system\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Chudley McCullough syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Disorder of head\Encephalopathy\Cerebellar disorder\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Disorder of head\Encephalopathy\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Disorder of head\Disorder of ear\Chudley McCullough syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Chudley McCullough syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of nervous system\Congenital anomaly of central nervous system\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of brain\Dysgenesis of the cerebellum\Chudley McCullough syndrome

Status: current, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3724847014 Chudley McCullough syndrome (disorder) en Fully specified name Active Case sensitive SNOMED CT core

3724848016 Chudley McCullough syndrome en Synonym Active Case sensitive SNOMED CT core

3724849012 A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Chudley McCullough syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Chudley McCullough syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Chudley McCullough syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Chudley McCullough syndrome	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Chudley McCullough syndrome	Finding site	Ear structure	true	Inferred relationship	Some	2
Chudley McCullough syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Chudley McCullough syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Chudley McCullough syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	1
Chudley McCullough syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Chudley McCullough syndrome	Finding site	Cerebellar structure	true	Inferred relationship	Some	1
Chudley McCullough syndrome	Is a	Dysgenesis of the cerebellum	true	Inferred relationship	Some
Chudley McCullough syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Chudley McCullough syndrome	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Chudley McCullough syndrome	Is a	Disorder of ear	true	Inferred relationship	Some
Chudley McCullough syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3724847014	Chudley McCullough syndrome (disorder)	en	Fully specified name	Active	Case sensitive	SNOMED CT core
3724848016	Chudley McCullough syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3724849012	A rare genetic syndromic deafness with characteristics of severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and cerebellar cortical dysplasia (bilateral medial frontal polymicrogyria, bilateral frontal subcortical heterotopia) and in some, arachnoid cysts. Major physical abnormalities or psychomotor delay are usually not associated. Caused by homozygous or compound heterozygous mutation in the GPSM2 gene on chromosome 1p13.	en	Definition	Active	Case sensitive	SNOMED CT core