723504000: syndroom van corneale anesthesie, doofheid en verstandelijke beperking (aandoening)

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

\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Ramos Arroyo syndrome (disorder)

\Ear and auditory finding (finding)\Disorder of auditory system\Auditory system hereditary disorder\Ramos Arroyo syndrome (disorder)
\Ear and auditory finding (finding)\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome (disorder)
\Ear and auditory finding (finding)\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome (disorder)

\Functional finding\Finding of sensory function\Hearing finding (finding)\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Ramos Arroyo syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Ramos Arroyo syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Ramos Arroyo syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Ramos Arroyo syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Ramos Arroyo syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Ramos Arroyo syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Ramos Arroyo syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Ramos Arroyo syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3424864017 Ramos Arroyo syndrome (disorder) en Fully specified name Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424865016 Ramos Arroyo syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424866015 Corneal anesthesia, deafness, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3424867012 Corneal anaesthesia, deafness, intellectual disability syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

6796741000146117 syndroom van Ramos Arroyo nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

6796761000146116 syndroom van corneale anesthesie, doofheid en mentale retardatie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7495061000146119 syndroom van corneale anesthesie, doofheid en verstandelijke beperking (aandoening) nl Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7572581000146112 syndroom van corneale anesthesie, doofheid en verstandelijke beperking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

7572591000146114 syndroom van corneale anesthesie, doofheid en verstandelijke handicap nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Netherlands NRC maintained module (core metadata concept)

3424868019 An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3424869010 An extremely rare genetic disorder characterised by corneal anaesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The aetiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity. 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
Ramos Arroyo syndrome (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	mentale retardatie	false	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Finding site	Ear structure	false	Inferred relationship	Some	2
Ramos Arroyo syndrome (disorder)	Associated morphology	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some	2
Ramos Arroyo syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	2
Ramos Arroyo syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	2
Ramos Arroyo syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Ramos Arroyo syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Ramos Arroyo syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Ramos Arroyo syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Ramos Arroyo syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	2
Ramos Arroyo syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	3
Ramos Arroyo syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Ramos Arroyo syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Ramos Arroyo syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Ramos Arroyo syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Ramos Arroyo syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Ramos Arroyo syndrome (disorder)	Is a	Congenital hearing loss (disorder)	false	Inferred relationship	Some

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
3424864017	Ramos Arroyo syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424865016	Ramos Arroyo syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424866015	Corneal anesthesia, deafness, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3424867012	Corneal anaesthesia, deafness, intellectual disability syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
6796741000146117	syndroom van Ramos Arroyo	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
6796761000146116	syndroom van corneale anesthesie, doofheid en mentale retardatie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7495061000146119	syndroom van corneale anesthesie, doofheid en verstandelijke beperking (aandoening)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7572581000146112	syndroom van corneale anesthesie, doofheid en verstandelijke beperking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
7572591000146114	syndroom van corneale anesthesie, doofheid en verstandelijke handicap	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
3424868019	An extremely rare genetic disorder characterized by corneal anesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The etiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3424869010	An extremely rare genetic disorder characterised by corneal anaesthesia, retinal abnormalities, bilateral hearing loss, distinct facies, patent ductus arteriosus, Hirschsprung disease, short stature and intellectual disability. The phenotype is variable. Some affected individuals have only mild disease manifestations. The aetiology of this syndrome is not yet known. Mutations in an as of yet unidentified gene, involved in autonomic nervous system function, are suspected. Follows an autosomal dominant pattern of inheritance, probably with variable expressivity.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core