722111004: Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

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

\Finding of head and neck region\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\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

\fynd som rör öra och hörsel\Disorder of auditory system\Auditory system hereditary disorder\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\fynd som rör öra och hörsel\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\fynd som rör öra och hörsel\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

\Functional finding\Hearing finding (finding)\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Musculoskeletal finding\Bone finding\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Musculoskeletal finding\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Degenerative disorder\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of musculoskeletal system\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Sensorineural hearing loss\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Hereditary disorder of musculoskeletal system\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Degenerative disorder of musculoskeletal system\Degenerative disorder of bone\Osteopenia\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Disorder of skeletal system\Disorder of bone (disorder)\Degenerative disorder of bone\Osteopenia\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Disorder of body system\Disorder of musculoskeletal system\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism 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\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism 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\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Mental disorder\Developmental mental disorder\Intellectual disability\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Developmental mental disorder\Intellectual disability\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Disorder of bone development (disorder)\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism 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\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)

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

Descriptions:

Id Description Lang Type Status Case? Module

3330735017 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330736016 Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3330737013 This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3910521000052115 syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Sensorineural hearing loss	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	mental retardation	false	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Osteopenia	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Congenital connective tissue disorder	false	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Connective tissue hereditary disorder (disorder)	false	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Hereditary disorder of musculoskeletal system	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Structure of auditory system (body structure)	true	Inferred relationship	Some	3
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	Hearing	true	Inferred relationship	Some	4
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Interprets	observabel som rör funktion	false	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Osteopenia	false	Inferred relationship	Some	5
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Bone structure	false	Inferred relationship	Some	5
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	utvecklingsabnormitet	false	Inferred relationship	Some	6
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	6
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	6
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Congenital anomaly of skeletal bone	true	Inferred relationship	Some
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Associated morphology	Osteopenia	true	Inferred relationship	Some	2
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Finding site	Bone structure	true	Inferred relationship	Some	2
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

GB English

US English

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Id	Description	Lang	Type	Status	Case?	Module
3330735017	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330736016	Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3330737013	This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3910521000052115	syndrom med osteopeni, myopi, dövhet, intellektuell funktionsnedsättning och medfödd ansiktsmissbildning	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)