733419006: Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Mental state, behaviour and/or psychosocial function finding\Behaviour finding\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Functional finding\Cognitive function finding\Intellectual ability - finding\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\General finding of observation of patient\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Hearing loss associated with syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Hereditary disorder of musculoskeletal system\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Congenital disease\Congenital hearing disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Congenital malformation syndromes associated with short stature\Metaphyseal chondrodysplasia\Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome

Status: current, Primitive. Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3499401012 Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome en Synonym Active Case insensitive SNOMED CT core

3499402017 Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3499990010 Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Finding site	Ear structure	true	Inferred relationship	Some	1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Finding site	Bone structure	true	Inferred relationship	Some	2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	2
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Interprets	Intellectual ability	true	Inferred relationship	Some	5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Interprets	Adaptation behaviour	true	Inferred relationship	Some	6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Metaphyseal chondrodysplasia	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Conductive hearing loss	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Multiple system malformation syndrome	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Intellectual disability	false	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Congenital hearing disorder	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Hearing loss associated with syndrome	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Inherited disorder of connective tissue	false	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Interprets	Hearing	true	Inferred relationship	Some	3
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Associated morphology	Congenital dysplasia	false	Inferred relationship	Some	5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Finding site	Bone structure	false	Inferred relationship	Some	5
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Occurrence	Congenital	false	Inferred relationship	Some	6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Finding site	Ear structure	false	Inferred relationship	Some	6
Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	Is a	Intellectual disability	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3499401012	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3499402017	Metaphyseal dysostosis, intellectual disability, conductive deafness syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3499990010	Syndrome with characteristics of metaphyseal dysplasia, short-limb dwarfism, mild intellectual deficit and conductive hearing loss, associated with repeated episodes of otitis media in childhood. It has been described in three brothers born to consanguineous Sicilian parents. Variable manifestations included hyperopia and strabismus. The mode of inheritance is autosomal recessive.	en	Definition	Active	Case sensitive	SNOMED CT core